Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K407*

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.K407*
c.1219A>T
Surrounding Variants
1 paper
NM_000463.3
p.K407fs
c.1219_1220fs
7 papers
NM_000463.3
p.G408insFs
c.1223_1224insG
1 paper
NM_000463.3
p.K407R
c.1220A>G
5 papers
NM_000463.3
p.K407delFs
c.1220delA
1 paper
NM_000463.3
p.K407N
c.1221G>C
1 paper
NM_000463.3
p.K407N
c.1221G>T
1 paper
NM_000463.3
p.G408_A409insFs
c.1224_1225insG
1 paper
NM_000463.3
p.G408_A409insFs
c.1224_1225insT
2 papers
NM_000463.3
p.E405K
c.1213G>A
1 paper
NM_000463.3
p.A409fs
c.1225_1226fs
1 paper
NM_000463.3
p.A409V
c.1226C>T
3 papers
NM_000463.3
p.M404T
c.1211T>C
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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."