Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.V245L

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.V245L
c.733G>C
Surrounding Variants
1 paper
NM_007120.3
p.L248I
c.742C>A
1 paper
NM_007120.3
p.V249L
c.745G>C
1 paper
NM_007120.3
p.S250N
c.749G>A
1 paper
NM_007120.3
p.Y251H
c.751T>C
1 paper
NM_007120.3
p.W255*
c.765G>A
1 paper
NM_007120.3
p.L234P
c.701T>C
1 paper
NM_007120.3
p.A232V
c.695C>T
1 paper
NM_007120.3
p.A232T
c.694G>A
3 papers
NM_007120.3
p.G259R
c.775G>A
3 papers
NM_007120.3
p.G259R
c.775G>C
2 papers
NM_007120.3
p.A229D
c.686C>A
1 paper
NM_007120.3
p.F261F
c.783T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."