Varaico: Literature-Extracted Genetic Variants

Gene:UGT2B17
Variant:p.I418L

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.I418L
c.1252A>C
Surrounding Variants
1 paper
NM_001077.4
p.A413S
c.1237G>T
1 paper
NM_001077.4
p.I434F
c.1300A>T
1 paper
NM_001077.4
p.H401L
c.1202A>T
1 paper
NM_001077.4
p.A398G
c.1193C>G
1 paper
NM_001077.4
p.Y386*
c.1158C>G
1 paper
NM_001077.4
p.Y386*
c.1158C>A
1 paper
NM_001077.4
p.K368I
c.1103A>T
1 paper
NM_001077.4
p.T352I
c.1055C>T
2 papers
NM_001077.4
p.D341Y
c.1021G>T
1 paper
NM_001077.4
p.A330V
c.989C>T
1 paper
NM_001077.4
p.S312_M313insA
c.934_938ins3
1 paper
NM_001077.4
p.V307L
c.919G>T
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