Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.A72P

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.A72P
c.214G>C
Surrounding Variants
1 paper
NM_000463.3
p.G71G
c.213A>G
1 paper
NM_000463.3
p.Y74insFs
c.220dupT
1 paper
NM_000463.3
p.A72A
c.216A>G
2 papers
NM_000463.3
p.G71A
c.212G>C
585 papers
NM_000463.3
p.G71R
c.211G>A
452 papers
NM_000463.3
p.G71R
c.211G>C
3 papers
NM_000463.3
p.G71*
c.211G>T
6 papers
NM_000463.3
p.F73L
c.217T>C
1 paper
NM_000463.3
p.F73V
c.217T>G
1 paper
NM_000463.3
p.D70E
c.210C>G
1 paper
NM_000463.3
p.F73S
c.218T>C
1 paper
NM_000463.3
p.D70G
c.209A>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."