Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Y74H

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.Y74H
c.220T>C
Surrounding Variants
6 papers
NM_000463.3
p.F73L
c.219T>A
5 papers
NM_000463.3
p.F73L
c.219T>G
12 papers
NM_000463.3
p.Y74*
c.222C>A
7 papers
NM_000463.3
p.Y74*
c.222C>G
1 paper
NM_000463.3
p.Y74Y
c.222C>T
1 paper
NM_000463.3
p.F73S
c.218T>C
2 papers
NM_000463.3
p.T75A
c.223A>G
6 papers
NM_000463.3
p.F73L
c.217T>C
1 paper
NM_000463.3
p.F73V
c.217T>G
1 paper
NM_000463.3
p.Y74insFs
c.220dupT
1 paper
NM_000463.3
p.A72A
c.216A>G
1 paper
NM_000463.3
p.T75insFs
c.224_225insG
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."