Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S65_I68del0

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.S65_I68del0
c.193_204del12
Surrounding Variants
1 paper
NM_000463.3
p.A64V
c.191C>T
3 papers
NM_000463.3
p.A64T
c.190G>A
7 papers
NM_000463.3
p.D63D
c.189C>T
1 paper
NM_000463.3
p.D63V
c.188A>T
1 paper
NM_000463.3
p.S65*
c.194C>A
1 paper
NM_000463.3
p.P62R
c.185C>G
1 paper
NM_000463.3
p.L66F
c.198G>T
1 paper
NM_000463.3
p.Y67C
c.200A>G
2 papers
NM_000463.3
p.Y67F
c.200A>T
6 papers
NM_000463.3
p.A61G
c.182C>G
1 paper
NM_000463.3
p.Y67Y
c.201C>T
3 papers
NM_000463.3
p.A61T
c.181G>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."