Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.R91C

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
3 papers
NM_007120.3
p.R91C
c.271C>T
Surrounding Variants
1 paper
NM_007120.3
p.R91P
c.272G>C
1 paper
NM_007120.3
p.V92D
c.275T>A
1 paper
NM_007120.3
p.T93M
c.278C>T
1 paper
NM_007120.3
p.E88K
c.262G>A
1 paper
NM_007120.3
p.K87*
c.259A>T
1 paper
NM_007120.3
p.Q98*
c.292C>T
1 paper
NM_007120.3
p.P83L
c.248C>T
1 paper
NM_007120.3
p.A81_P83delins
c.243_247delinsCATTT
1 paper
NM_007120.3
p.T103A
c.307A>G
2 papers
NM_007120.3
p.A79T
c.235G>A
1 paper
NM_007120.3
p.T78T
c.234A>G
1 paper
NM_007120.3
p.E104delFs
c.310delG
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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."