Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.H132Q

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
2 papers
NM_000463.3
p.H132Q
c.396C>G
Surrounding Variants
2 papers
NM_000463.3
p.H132Q
c.396C>A
2 papers
NM_000463.3
p.N133H
c.397A>C
1 paper
NM_000463.3
p.H132_K134del0
c.396_401del6
2 papers
NM_000463.3
p.N133N
c.399C>T
1 paper
NM_000463.3
p.L131L
c.393G>A
1 paper
NM_000463.3
p.L131Q
c.392T>A
10 papers
NM_000463.3
p.L131P
c.392T>C
1 paper
NM_000463.3
p.K134R
c.401A>G
13 papers
NM_000463.3
p.L131M
c.391C>A
1 paper
NM_000463.3
p.L131L
c.391C>T
1 paper
NM_000463.3
p.L131del1
c.391_393delCTG
1 paper
NM_000463.3
p.K134K
c.402G>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."