Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A7
Variant:p.H53R

UGT1A7

260 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 26–521UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A7

HGNC Alias Symbol

UGT1G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019077.3
p.H53R
c.158A>G
Surrounding Variants
1 paper
NM_019077.3
p.G52G
c.156G>A
3 papers
NM_019077.3
p.V55M
c.163G>A
1 paper
NM_019077.3
p.L50L
c.150C>G
1 paper
NM_019077.3
p.V56D
c.167T>A
1 paper
NM_019077.3
p.V56V
c.168C>A
1 paper
NM_019077.3
p.L48L
c.144C>T
2 papers
NM_019077.3
p.L48P
c.143T>C
5 papers
NM_019077.3
p.L48V
c.142C>G
6 papers
NM_019077.3
p.M59I
c.177G>A
5 papers
NM_019077.3
p.M59I
c.177G>C
5 papers
NM_019077.3
p.M59I
c.177G>T
1 paper
NM_019077.3
p.E61K
c.181G>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."