Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V495I

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
1 paper
NM_000463.3
p.V498I
c.1492G>A
Surrounding Variants
1 paper
NM_000463.3
p.A497A
c.1491C>T
2 papers
NM_000463.3
p.V498V
c.1494C>T
2 papers
NM_000463.3
p.V499M
c.1495G>A
4 papers
NM_000463.3
p.L496*
c.1487T>A
2 papers
NM_000463.3
p.A497delFs
c.1489delG
2 papers
NM_000463.3
p.L500L
c.1498C>T
2 papers
NM_000463.3
p.L495L
c.1485C>T
1 paper
NM_000463.3
p.F494S
c.1481T>C
1 paper
NM_000463.3
p.G493S
c.1477G>A
1 paper
NM_000463.3
p.A503T
c.1507G>A
10 papers
NM_000463.3
p.G493R
c.1477G>C
1 paper
NM_000463.3
p.G493Fs
c.1477_1479delinsAGAGACAFs
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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."