Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R209W

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
30 papers
NM_000463.3
p.R209W
c.625C>T
Surrounding Variants
1 paper
NM_000463.3
p.R209G
c.625C>G
1 paper
NM_000463.3
p.R209fs
c.625_626fs
1 paper
NM_000463.3
p.R209Q
c.626G>A
1 paper
NM_000463.3
p.R209L
c.626G>T
1 paper
NM_000463.3
p.Q208R
c.623A>G
3 papers
NM_000463.3
p.R209R
c.627G>T
1 paper
NM_000463.3
p.V210delFs
c.628_629delGT
1 paper
NM_000463.3
p.Q208*
c.622C>T
1 paper
NM_000463.3
p.V210_K211insGAC
c.628_632ins9
1 paper
NM_000463.3
p.L207L
c.621G>C
5 papers
NM_000463.3
p.Q208_R209insFs
c.622_625dup4
1 paper
NM_000463.3
p.L207Q
c.620T>A
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."