Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.K212*

UGT1A4

192 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 29–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A4

HGNC Alias Symbols

HUG-BR2; UGT1D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007120.3
p.K212*
c.634A>T
Surrounding Variants
2 papers
NM_007120.3
p.M214I
c.642G>A
1 paper
NM_007120.3
p.L215L
c.645C>T
1 paper
NM_007120.3
p.A219A
c.657C>T
3 papers
NM_007120.3
p.S202L
c.605C>T
2 papers
NM_007120.3
p.I223L
c.667A>C
1 paper
NM_007120.3
p.H225Y
c.673C>T
2 papers
NM_007120.3
p.A229D
c.686C>A
1 paper
NM_007120.3
p.A232T
c.694G>A
1 paper
NM_007120.3
p.A232V
c.695C>T
1 paper
NM_007120.3
p.L234P
c.701T>C
1 paper
NM_007120.3
p.V245L
c.733G>C
4 papers
NM_007120.3
p.I176F
c.526A>T
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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."