Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.G395V

UGT1A1

1,221 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 28–524UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A1

HGNC Previous Symbols

UGT1; GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_000463.3
p.G395V
c.1184G>T
Surrounding Variants
1 paper
NM_000463.3
p.G395R
c.1183G>C
4 papers
NM_000463.3
p.D396delFs
c.1186delG
2 papers
NM_000463.3
p.F394S
c.1181T>C
1 paper
NM_000463.3
p.Q397L
c.1190A>T
8 papers
NM_000463.3
p.P392L
c.1175C>T
1 paper
NM_000463.3
p.D399delFs
c.1195delG
1 paper
NM_000463.3
p.P392S
c.1174C>T
3 papers
NM_000463.3
p.D399Y
c.1195G>T
3 papers
NM_000463.3
p.D399G
c.1196A>G
3 papers
NM_000463.3
p.M391K
c.1172T>A
5 papers
NM_000463.3
p.N400H
c.1198A>C
13 papers
NM_000463.3
p.N400D
c.1198A>G
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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."