Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K402K

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.K402K
c.1206G>A
Surrounding Variants
7 papers
NM_000463.3
p.K402T
c.1205A>C
10 papers
NM_000463.3
p.R403C
c.1207C>T
4 papers
NM_000463.3
p.R403H
c.1208G>A
2 papers
NM_000463.3
p.R403L
c.1208G>T
1 paper
NM_000463.3
p.A401_K402ins1
c.1203_1204insAGC
1 paper
NM_000463.3
p.A401G
c.1202C>G
1 paper
NM_000463.3
p.A401T
c.1201G>A
16 papers
NM_000463.3
p.A401P
c.1201G>C
3 papers
NM_000463.3
p.M404T
c.1211T>C
2 papers
NM_000463.3
p.E405K
c.1213G>A
5 papers
NM_000463.3
p.N400H
c.1198A>C
13 papers
NM_000463.3
p.N400D
c.1198A>G
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."