Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.F221S

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.F221S
c.662T>C
Surrounding Variants
1 paper
NM_000463.3
p.F221_L222ins1
c.663_664insGAC
1 paper
NM_000463.3
p.N220N
c.660C>T
1 paper
NM_000463.3
p.L222P
c.665T>C
1 paper
NM_000463.3
p.N220insFs
c.658_659insG
2 papers
NM_000463.3
p.L222L
c.666G>A
1 paper
NM_000463.3
p.N220del1
c.658_660delAAC
5 papers
NM_000463.3
p.C223Y
c.668G>A
1 paper
NM_000463.3
p.C223C
c.669C>T
4 papers
NM_000463.3
p.D224N
c.670G>A
1 paper
NM_000463.3
p.D224G
c.671A>G
1 paper
NM_000463.3
p.S218*
c.653C>G
1 paper
NM_000463.3
p.D224D
c.672C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."