Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.E56V

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.E56V
c.167A>T
Surrounding Variants
2 papers
NM_000463.3
p.E56A
c.167A>C
1 paper
NM_000463.3
p.E56K
c.166G>A
2 papers
NM_000463.3
p.H55R
c.164A>G
1 paper
NM_000463.3
p.H55delFs
c.165delT
6 papers
NM_000463.3
p.H55N
c.163C>A
1 paper
NM_000463.3
p.H55_E56ins6
c.163_167ins18
1 paper
NM_000463.3
p.G54V
c.161G>T
1 paper
NM_000463.3
p.G54*
c.160G>T
1 paper
NM_000463.3
p.V59I
c.175G>A
1 paper
NM_000463.3
p.R53S
c.159G>C
1 paper
NM_000463.3
p.R53S
c.159G>T
1 paper
NM_000463.3
p.Q52Q
c.156G>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."