Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S125fs

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.S125fs
c.373_374fs
Surrounding Variants
1 paper
NM_000463.3
p.S125T
c.373T>A
2 papers
NM_000463.3
p.L124F
c.372G>C
1 paper
NM_000463.3
p.L124F
c.372G>T
1 paper
NM_000463.3
p.L124W
c.371T>G
1 paper
NM_000463.3
p.G126S
c.376G>A
1 paper
NM_000463.3
p.L124M
c.370T>A
1 paper
NM_000463.3
p.G126G
c.378C>A
4 papers
NM_000463.3
p.G126G
c.378C>T
1 paper
NM_000463.3
p.L123F
c.367C>T
2 papers
NM_000463.3
p.C127Y
c.380G>A
1 paper
NM_000463.3
p.L123delFs
c.367_368delCT
2 papers
NM_000463.3
p.C127_S128insFs
c.381_382insGG
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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."