Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L130V

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.L130V
c.388T>G
Surrounding Variants
1 paper
NM_000463.3
p.L130L
c.388T>C
2 papers
NM_000463.3
p.H129Q
c.387C>A
1 paper
NM_000463.3
p.H129H
c.387C>T
2 papers
NM_000463.3
p.H129R
c.386A>G
1 paper
NM_000463.3
p.L131del1
c.391_393delCTG
13 papers
NM_000463.3
p.L131M
c.391C>A
1 paper
NM_000463.3
p.H129N
c.385C>A
1 paper
NM_000463.3
p.L131L
c.391C>T
1 paper
NM_000463.3
p.S128S
c.384C>G
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.S128C
c.383C>G
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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."