Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Y113*

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
3 papers
NM_000463.3
p.Y113*
c.339C>G
Surrounding Variants
1 paper
NM_000463.3
p.Y113*
c.339C>A
1 paper
NM_000463.3
p.Y113Y
c.339C>T
1 paper
NM_000463.3
p.K114T
c.341A>C
4 papers
NM_000463.3
p.Y113H
c.337T>C
2 papers
NM_000463.3
p.Y113D
c.337T>G
1 paper
NM_000463.3
p.Y113fs
c.337_338fs
1 paper
NM_000463.3
p.K114K
c.342G>A
1 paper
NM_000463.3
p.K114_K115insFs
c.342_343insA
1 paper
NM_000463.3
p.K115E
c.343A>G
1 paper
NM_000463.3
p.T112I
c.335C>T
1 paper
NM_000463.3
p.Y113delFs
c.337_338delTA
3 papers
NM_000463.3
p.T112A
c.334A>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."