Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L31delFs

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.L31delFs
c.93delG
Surrounding Variants
1 paper
NM_000463.3
p.I30I
c.90A>T
1 paper
NM_000463.3
p.L32fs
c.94_95fs
1 paper
NM_000463.3
p.I30T
c.89T>C
1 paper
NM_000463.3
p.I30L
c.88A>C
1 paper
NM_000463.3
p.I30V
c.88A>G
1 paper
NM_000463.3
p.L32L
c.96G>A
1 paper
NM_000463.3
p.I33insFs
c.98_99insGT
1 paper
NM_000463.3
p.I33V
c.97A>G
3 papers
NM_000463.3
p.K29K
c.87G>A
2 papers
NM_000463.3
p.K29T
c.86A>C
1 paper
NM_000463.3
p.K29M
c.86A>T
8 papers
NM_000463.3
p.I33T
c.98T>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."