Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V12A

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.V12A
c.35T>C
Surrounding Variants
1 paper
NM_000463.3
p.V12V
c.36C>T
3 papers
NM_000463.3
p.V12I
c.34G>A
1 paper
NM_000463.3
p.V12delFs
c.35delT
1 paper
NM_000463.3
p.L11L
c.33T>C
1 paper
NM_000463.3
p.L11H
c.32T>A
2 papers
NM_000463.3
p.L11P
c.32T>C
2 papers
NM_000463.3
p.L13P
c.38T>C
2 papers
NM_000463.3
p.L13R
c.38T>G
11 papers
NM_000463.3
p.G14insFs
c.40dupG
1 paper
NM_000463.3
p.L11insFs
c.32_33insT
6 papers
NM_000463.3
p.L11F
c.31C>T
2 papers
NM_000463.3
p.L13L
c.39G>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."