Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R108C

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.R108C
c.322C>T
Surrounding Variants
1 paper
NM_000463.3
p.R108H
c.323G>A
1 paper
NM_000463.3
p.Q107*
c.319C>T
2 papers
NM_000463.3
p.V109M
c.325G>A
4 papers
NM_000463.3
p.V109A
c.326T>C
1 paper
NM_000463.3
p.I110I
c.330C>T
2 papers
NM_000463.3
p.F105S
c.314T>C
2 papers
NM_000463.3
p.K111Q
c.331A>C
1 paper
NM_000463.3
p.S104S
c.312T>C
3 papers
NM_000463.3
p.T112A
c.334A>G
1 paper
NM_000463.3
p.T112I
c.335C>T
1 paper
NM_000463.3
p.Y113delFs
c.337_338delTA
4 papers
NM_000463.3
p.Y113H
c.337T>C
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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."