Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.M272I

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.M272I
c.816G>A
Surrounding Variants
2 papers
NM_000463.3
p.V273F
c.817G>T
1 paper
NM_000463.3
p.M272T
c.815T>C
3 papers
NM_000463.3
p.M272V
c.814A>G
2 papers
NM_000463.3
p.V275_G276del1
c.824_826delTTG
1 paper
NM_000463.3
p.P270insFs
c.809_810insT
1 paper
NM_000463.3
p.P270L
c.809C>T
2 papers
NM_000463.3
p.V275I
c.823G>A
1 paper
NM_000463.3
p.V275L
c.823G>C
1 paper
NM_000463.3
p.P270S
c.808C>T
1 paper
NM_000463.3
p.V275G
c.824T>G
4 papers
NM_000463.3
p.V275V
c.825T>C
1 paper
NM_000463.3
p.G276delFs
c.826delG
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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."