Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V193M

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
4 papers
NM_000463.3
p.V193M
c.577G>A
Surrounding Variants
3 papers
NM_000463.3
p.Y192*
c.576C>A
4 papers
NM_000463.3
p.Y192*
c.576C>G
1 paper
NM_000463.3
p.Y192Y
c.576C>T
1 paper
NM_000463.3
p.V193_M204del12
c.577_611del36
3 papers
NM_000463.3
p.V193G
c.578T>G
2 papers
NM_000463.3
p.Y192C
c.575A>G
1 paper
NM_000463.3
p.P194delFs
c.582delC
1 paper
NM_000463.3
p.Y192fs
c.574_575fs
3 papers
NM_000463.3
p.P194L
c.581C>T
2 papers
NM_000463.3
p.P194_R195insFs
c.582_583insT
5 papers
NM_000463.3
p.S191F
c.572C>T
2 papers
NM_000463.3
p.S191P
c.571T>C
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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."