Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K77*

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.K77*
c.229A>T
Surrounding Variants
1 paper
NM_000463.3
p.K77M
c.230A>T
1 paper
NM_000463.3
p.K77K
c.231G>A
1 paper
NM_000463.3
p.K77N
c.231G>C
1 paper
NM_000463.3
p.K77N
c.231G>T
1 paper
NM_000463.3
p.L76_K77delFs
c.227_231del5
1 paper
NM_000463.3
p.T75T
c.225C>A
1 paper
NM_000463.3
p.T78K
c.233C>A
5 papers
NM_000463.3
p.T78M
c.233C>T
1 paper
NM_000463.3
p.L76_Q84del9
c.226_251del27
1 paper
NM_000463.3
p.T75insFs
c.224_225insG
1 paper
NM_000463.3
p.T75I
c.224C>T
1 paper
NM_000463.3
p.T78T
c.234G>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."