Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.W332fs

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.W335fs
c.1003_1004fs
Surrounding Variants
9 papers
NM_000463.3
p.W335*
c.1004G>A
9 papers
NM_000463.3
p.W335*
c.1005G>A
1 paper
NM_000463.3
p.L334Q
c.1001T>A
2 papers
NM_000463.3
p.L334P
c.1001T>C
1 paper
NM_000463.3
p.L334delFs
c.1002delG
1 paper
NM_000463.3
p.L334M
c.1000C>A
1 paper
NM_000463.3
p.R336_Y337insFs
c.1007_1010dup4
19 papers
NM_000463.3
p.R336W
c.1006C>T
7 papers
NM_000463.3
p.R336Q
c.1007G>A
9 papers
NM_000463.3
p.R336L
c.1007G>T
2 papers
NM_000463.3
p.V333I
c.997G>A
1 paper
NM_000463.3
p.V333F
c.997G>T
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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."