Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A5
Variant:p.H40P

UGT1A5

72 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 A5

HGNC Alias Symbol

UGT1E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019078.2
p.H40P
c.119A>C
Surrounding Variants
1 paper
NM_019078.2
p.W41*
c.122G>A
1 paper
NM_019078.2
p.W41*
c.123G>A
1 paper
NM_019078.2
p.T36S
c.107C>G
1 paper
NM_019078.2
p.T36S
c.106A>T
2 papers
NM_019078.2
p.R45W
c.133C>T
1 paper
NM_019078.2
p.P35P
c.105C>T
4 papers
NM_019078.2
p.L48V
c.142T>G
5 papers
NM_019078.2
p.L48S
c.143T>C
1 paper
NM_019078.2
p.R49W
c.145C>T
4 papers
NM_019078.2
p.D50E
c.150C>A
4 papers
NM_019078.2
p.D50E
c.150C>G
2 papers
NM_019078.2
p.E27E
c.81G>A
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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."