Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P34S

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
9 papers
NM_000463.3
p.P34S
c.100C>T
Surrounding Variants
7 papers
NM_000463.3
p.P34Q
c.101C>A
1 paper
NM_000463.3
p.I33M
c.99C>G
4 papers
NM_000463.3
p.P34L
c.101C>T
1 paper
NM_000463.3
p.P34P
c.102A>C
8 papers
NM_000463.3
p.I33T
c.98T>C
1 paper
NM_000463.3
p.I33S
c.98T>G
1 paper
NM_000463.3
p.I33insFs
c.98_99insGT
1 paper
NM_000463.3
p.I33V
c.97A>G
1 paper
NM_000463.3
p.V35L
c.103G>C
1 paper
NM_000463.3
p.L32L
c.96G>A
1 paper
NM_000463.3
p.V35V
c.105G>A
3 papers
NM_000463.3
p.D36N
c.106G>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."