Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.S343*

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.S343*
c.1028C>A
Surrounding Variants
4 papers
NM_000463.3
p.S343L
c.1028C>T
1 paper
NM_000463.3
p.P342_S343insA
c.1024_1028ins3
4 papers
NM_000463.3
p.P342S
c.1024C>T
2 papers
NM_000463.3
p.N344K
c.1032T>A
2 papers
NM_000463.3
p.N344K
c.1032T>G
1 paper
NM_000463.3
p.L345insFs
c.1035dupT
3 papers
NM_000463.3
p.R341Q
c.1022G>A
1 paper
NM_000463.3
p.R341P
c.1022G>C
22 papers
NM_000463.3
p.R341*
c.1021C>T
1 paper
NM_000463.3
p.L345L
c.1035T>C
1 paper
NM_000463.3
p.T340N
c.1019C>A
1 paper
NM_000463.3
p.A346E
c.1037C>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."