Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P229L

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
34 papers
NM_000463.3
p.P229L
c.686C>T
Surrounding Variants
196 papers
NM_000463.3
p.P229Q
c.686C>A
3 papers
NM_000463.3
p.Y230S
c.689A>C
3 papers
NM_000463.3
p.Y230C
c.689A>G
2 papers
NM_000463.3
p.S228Y
c.683C>A
1 paper
NM_000463.3
p.Y230*
c.690T>G
1 paper
NM_000463.3
p.A231T
c.691G>A
2 papers
NM_000463.3
p.Y227*
c.681T>G
1 paper
NM_000463.3
p.A231A
c.693A>T
1 paper
NM_000463.3
p.Y227fs
c.679_680fs
2 papers
NM_000463.3
p.T232A
c.694A>G
1 paper
NM_000463.3
p.Y227_A231del5
c.679_692del15
2 papers
NM_000463.3
p.T232N
c.695C>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."