Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.C517Y

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.C517Y
c.1550G>A
Surrounding Variants
2 papers
NM_000463.3
p.G519G
c.1557G>A
1 paper
NM_000463.3
p.K521delFs
c.1563delA
1 paper
NM_000463.3
p.Y514N
c.1540T>A
2 papers
NM_000463.3
p.G513_R515del3
c.1537_1544del9
1 paper
NM_000463.3
p.R523_K525del3
c.1567_1574del9
3 papers
NM_000463.3
p.R523*
c.1567C>T
2 papers
NM_000463.3
p.R523fs
c.1567_1568fs
1 paper
NM_000463.3
p.A511T
c.1531G>A
4 papers
NM_000463.3
p.A511P
c.1531G>C
4 papers
NM_000463.3
p.C510Y
c.1529G>A
1 paper
NM_000463.3
p.K525insFs
c.1574_1575insG
3 papers
NM_000463.3
p.C509Y
c.1526G>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."