Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S252F

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
2 papers
NM_000463.3
p.S252F
c.755C>T
Surrounding Variants
1 paper
NM_000463.3
p.S252S
c.756T>C
1 paper
NM_000463.3
p.V253insFs
c.757_758insG
1 paper
NM_000463.3
p.A251V
c.752C>T
1 paper
NM_000463.3
p.A251delFs
c.753delA
1 paper
NM_000463.3
p.W254R
c.760T>C
1 paper
NM_000463.3
p.S250C
c.749C>G
2 papers
NM_000463.3
p.W254*
c.761G>A
2 papers
NM_000463.3
p.W254*
c.762G>A
4 papers
NM_000463.3
p.S250P
c.748T>C
1 paper
NM_000463.3
p.S249S
c.747C>T
1 paper
NM_000463.3
p.S249N
c.746G>A
1 paper
NM_000463.3
p.L255Q
c.764T>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."