Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A5
Variant:p.V249L

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
4 papers
NM_019078.2
p.V249L
c.745G>C
Surrounding Variants
4 papers
NM_019078.2
p.L248I
c.742C>A
1 paper
NM_019078.2
p.L256L
c.768G>A
1 paper
NM_019078.2
p.R258*
c.772C>T
6 papers
NM_019078.2
p.G259R
c.775G>A
7 papers
NM_019078.2
p.G259R
c.775G>C
1 paper
NM_019078.2
p.G259A
c.776G>C
2 papers
NM_019078.2
p.F261F
c.783T>C
1 paper
NM_019078.2
p.L234P
c.701T>C
4 papers
NM_019078.2
p.D264D
c.792T>C
1 paper
NM_019078.2
p.A232delFs
c.695delC
2 papers
NM_019078.2
p.A229D
c.686C>A
1 paper
NM_019078.2
p.P268P
c.804G>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."