Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1

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
1–12 of 1130 variants
585 papers
NM_000463.3
p.G71R
c.211G>A
452 papers
NM_000463.3
p.G71R
c.211G>C
199 papers
NM_000463.3
p.Y486D
c.1456T>G
196 papers
NM_000463.3
p.P229Q
c.686C>A
89 papers
NM_000463.3
p.P364L
c.1091C>T
35 papers
NM_000463.3
p.R367G
c.1099C>G
34 papers
NM_000463.3
p.P229L
c.686C>T
32 papers
NM_000463.3
p.F83L
c.247T>C
32 papers
NM_000463.3
p.Q357R
c.1070A>G
30 papers
NM_000463.3
p.R209W
c.625C>T
29 papers
NM_000463.3
p.F83L
c.249C>A
29 papers
NM_000463.3
p.F83L
c.249C>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."