Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Y163_L164insFs

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.Y163_L164insFs
c.488_491dup4
Surrounding Variants
1 paper
NM_000463.3
p.Q162R
c.485A>G
3 papers
NM_000463.3
p.Y163C
c.488A>G
1 paper
NM_000463.3
p.Q162*
c.484C>T
1 paper
NM_000463.3
p.Y163*
c.489C>A
6 papers
NM_000463.3
p.V160E
c.479T>A
1 paper
NM_000463.3
p.S165fs
c.493_494fs
1 paper
NM_000463.3
p.I159I
c.477C>T
1 paper
NM_000463.3
p.L166_P167insFs
c.497_501dup5
1 paper
NM_000463.3
p.L166V
c.496C>G
2 papers
NM_000463.3
p.L166fs
c.496_497fs
8 papers
NM_000463.3
p.I159T
c.476T>C
1 paper
NM_000463.3
p.I159insFs
c.475_476insT
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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."