Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S191fs

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.S191fs
c.571_572fs
Surrounding Variants
2 papers
NM_000463.3
p.S191P
c.571T>C
1 paper
NM_000463.3
p.S191delFs
c.573delC
5 papers
NM_000463.3
p.S191F
c.572C>T
1 paper
NM_000463.3
p.F190Y
c.569T>A
1 paper
NM_000463.3
p.F190C
c.569T>G
1 paper
NM_000463.3
p.F190delFs
c.570delC
1 paper
NM_000463.3
p.Y192fs
c.574_575fs
1 paper
NM_000463.3
p.F190insFs
c.569dupT
2 papers
NM_000463.3
p.Y192C
c.575A>G
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
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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."