Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R475C

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
3 papers
NM_000463.3
p.R475C
c.1423C>T
Surrounding Variants
3 papers
NM_000463.3
p.R475H
c.1424G>A
2 papers
NM_000463.3
p.L474M
c.1420C>A
1 paper
NM_000463.3
p.P476P
c.1428C>T
2 papers
NM_000463.3
p.A477T
c.1429G>A
1 paper
NM_000463.3
p.P472_H473insFs
c.1416_1417insAC
1 paper
NM_000463.3
p.P472P
c.1416A>T
1 paper
NM_000463.3
p.P472L
c.1415C>T
6 papers
NM_000463.3
p.A478D
c.1433C>A
1 paper
NM_000463.3
p.A471G
c.1412C>G
1 paper
NM_000463.3
p.A471V
c.1412C>T
1 paper
NM_000463.3
p.H479Y
c.1435C>T
1 paper
NM_000463.3
p.A471T
c.1411G>A
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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."