Vitamin K Epoxide Reductase Complex, Subunit 1

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OMIM Number

608547

NCBI Gene ID

79001

Uniprot ID

Q9BQB6

Length

5,496 bases

No. of Exons

4

No. of isoforms

3

Protein Name

Vitamin K epoxide reductase complex subunit 1

Molecular Mass

18235 Da

Amino Acid Count

163

Genomic Location

chr16:31,090,842-31,096,337

Gene Map Locus
16p11.2

Description

This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001311311.1:c.-1639G>ALebanon; Oman; United ...NC_000016.10:g.31096368C>TDrug Response, Likely BenignDrug ResponseCoumarin ResistanceNG_011564.1:g.3588G>A; NM_001311311.1:c.-1639G>A99232312211
NM_001311311.1:c.-1639G>TLebanonchr16:31096368Drug ResponseDrug ResponseNG_011564.1:g.3588G>T; NM_001311311.1:c.-1639G>T9923231226030
NM_024006.4:c.283+837=United Arab EmiratesNC_000016.10:g.31092475=BenignDrug ResponseCoumarin ResistanceNG_011564.1:g.7481=; NM_024006.4:c.283+837=; NP_076869.1:p.?2359612515931
NM_024006.4:c.283+837T>CUnited Arab EmiratesNC_000016.10:g.31092475A>GBenign, Drug ResponseDrug ResponseCoumarin ResistanceNG_011564.1:g.7481T>C; NM_024006.4:c.283+837T>C; NP_076869.1:p.?2359612225975
NM_024006.6:c.*134=United Arab EmiratesNC_000016.10:g.31091000=Drug ResponseCoumarin ResistanceNG_011564.1:g.8956=; NM_024006.6:c.*134=7294
NM_024006.6:c.*134G>AUnited Arab EmiratesNC_000016.10:g.31091000C>TBenign, Drug ResponseDrug ResponseCoumarin ResistanceNG_011564.1:g.8956G>A; NM_024006.6:c.*134G>A; NP_076869.1:p.?7294226016
NM_024006.6:c.106G>TEgypt; Saudi Arabia; S...NC_000016.10:g.31094624C>ABenign, Likely Benign, Uncertain SignificanceDrug ResponseCoumarin ResistanceNG_011564.1:g.5332G>T; NM_024006.6:c.106G>T; NP_076869.1:p.Asp36Tyr617422452212
NM_024006.6:c.173+525C>TUnited Arab EmiratesNC_000016.10:g.31094032G>ABenign, Drug ResponseNG_011564.1:g.5924C>T; NM_024006.6:c.173+525C>T; NP_076869.1:p.?17708472225960
NM_024006.6:c.174-136C>TUnited Arab EmiratesNC_000016.10:g.31093557G>ADrug ResponseDrug ResponseCoumarin ResistanceNG_011564.1:g.6399C>T; NM_024006.6:c.174-136C>T; NP_076869.1:p.?993443837344
NM_024006.6:c.174-142A>GUnited Arab EmiratesNC_000016.10:g.31093563T>CNG_011564.1:g.6393A>G; NM_024006.6:c.174-142A>G; NP_076869.1:p.?188009042
NM_024006.6:c.283+124G>CUnited Arab EmiratesNC_000016.10:g.31093188C>GDrug Response, Likely BenignDrug ResponseCoumarin ResistanceNG_011564.1:g.6768G>C; NM_024006.6:c.283+124G>C; NP_076869.1:p.?8050894226026
NM_024006.6:c.292C>TLebanonchr16:31091334PathogenicPathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 2NG_011564.1:g.8622C>T; NM_024006.6:c.292C>T; NP_076869.1:p.Arg98Trp725475282206
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