Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R240G

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.R240G
c.718A>G
Surrounding Variants
3 papers
NM_000463.3
p.R240K
c.719G>A
1 paper
NM_000463.3
p.Q239R
c.716A>G
1 paper
NM_000463.3
p.Q239fs
c.715_716fs
7 papers
NM_000463.3
p.Q239*
c.715C>T
6 papers
NM_000463.3
p.E241delFs
c.722_723delAG
1 paper
NM_000463.3
p.E241fs
c.721_722fs
1 paper
NM_000463.3
p.E241*
c.721G>T
3 papers
NM_000463.3
p.E241fs
c.721_722fs
1 paper
NM_000463.3
p.E241A
c.722A>C
1 paper
NM_000463.3
p.E241V
c.722A>T
1 paper
NM_000463.3
p.E241_V242del1
c.723_725delGGT
1 paper
NM_000463.3
p.L238_Q239ins4
c.712_716ins12
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."