Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.V88A

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.V88A
c.263T>C
Surrounding Variants
1 paper
NM_000463.3
p.V88G
c.263T>G
1 paper
NM_000463.3
p.V88M
c.262G>A
2 papers
NM_000463.3
p.V88L
c.262G>C
1 paper
NM_000463.3
p.K89*
c.265A>T
1 paper
NM_000463.3
p.K89N
c.267A>T
1 paper
NM_000463.3
p.D87Y
c.259G>T
2 papers
NM_000463.3
p.E86E
c.258G>A
1 paper
NM_000463.3
p.E90K
c.268G>A
1 paper
NM_000463.3
p.E86D
c.258G>T
2 papers
NM_000463.3
p.S91C
c.272C>G
1 paper
NM_000463.3
p.R85K
c.254G>A
1 paper
NM_000463.3
p.R85G
c.253A>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."