Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B17
Variant:p.S121Y

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
1 paper
NM_001077.4
p.S121Y
c.362C>A
Surrounding Variants
1 paper
NM_001077.4
p.N124S
c.371A>G
1 paper
NM_001077.4
p.V132I
c.394G>A
1 paper
NM_001077.4
p.N104fs
c.310_311fs
2 papers
NM_001077.4
p.N104_T105insFs
c.312_313insA
1 paper
NM_001077.4
p.N104fs
c.310_311fs
1 paper
NM_001077.4
p.Y99D
c.295T>G
1 paper
NM_001077.4
p.T98I
c.293C>T
3 papers
NM_001077.4
p.D147V
c.440A>T
1 paper
NM_001077.4
p.F94L
c.282C>G
1 paper
NM_001077.4
p.F94L
c.282C>A
1 paper
NM_001077.4
p.F94L
c.280T>C
2 papers
NM_001077.4
p.M93I
c.279G>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."