Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.V379V

UGT1A4

192 papers

RefSeq Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-solub...

Pfam Domains

UDPGTaa 29–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A4

HGNC Alias Symbols

HUG-BR2; UGT1D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007120.3
p.V379V
c.1137T>C
Surrounding Variants
1 paper
NM_007120.3
p.H377D
c.1129C>G
1 paper
NM_007120.3
p.S376F
c.1127C>T
1 paper
NM_007120.3
p.G375S
c.1123G>A
1 paper
NM_007120.3
p.P393S
c.1177C>T
1 paper
NM_007120.3
p.P393L
c.1178C>T
2 papers
NM_007120.3
p.P365L
c.1094C>T
1 paper
NM_007120.3
p.D397A
c.1190A>C
1 paper
NM_007120.3
p.D397E
c.1191T>A
1 paper
NM_007120.3
p.D397E
c.1191T>G
1 paper
NM_007120.3
p.K408E
c.1222A>G
1 paper
NM_007120.3
p.G409insFs
c.1226dupG
1 paper
NM_007120.3
p.E418*
c.1252G>T
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