Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B17
Variant:p.E52G

UGT2B17

107 papers

RefSeq Summary

This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diver...

Pfam Domains

UDPGTaa 24–527UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 2 member B17

HGNC Previous Name

UDP glycosyltransferase 2 family, polypeptide B17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001077.4
p.E52G
c.155A>G
Surrounding Variants
2 papers
NM_001077.4
p.I54T
c.161T>C
1 paper
NM_001077.4
p.V55M
c.163G>A
1 paper
NM_001077.4
p.V47A
c.140T>C
1 paper
NM_001077.4
p.N38insFs
c.113dupA
1 paper
NM_001077.4
p.K68E
c.202A>G
3 papers
NM_001077.4
p.A71T
c.211G>A
1 paper
NM_001077.4
p.I72F
c.214A>T
1 paper
NM_001077.4
p.T31I
c.92C>T
1 paper
NM_001077.4
p.P78S
c.232C>T
2 papers
NM_001077.4
p.G24E
c.71G>A
1 paper
NM_001077.4
p.G24R
c.70G>A
16 papers
NM_001077.4
p.D85Y
c.253G>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."