Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.A141S

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.A141S
c.421G>T
Surrounding Variants
1 paper
NM_000463.3
p.A141G
c.422C>G
4 papers
NM_000463.3
p.L140L
c.420G>A
1 paper
NM_000463.3
p.L140L
c.418C>T
2 papers
NM_000463.3
p.S139S
c.417C>T
1 paper
NM_000463.3
p.S143G
c.427A>G
1 paper
NM_000463.3
p.S139T
c.415T>A
1 paper
NM_000463.3
p.S139P
c.415T>C
1 paper
NM_000463.3
p.S143N
c.428G>A
1 paper
NM_000463.3
p.M137I
c.411G>A
1 paper
NM_000463.3
p.S144T
c.431G>C
3 papers
NM_000463.3
p.F145delFs
c.433_434delTT
1 paper
NM_000463.3
p.L136L
c.408C>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."