Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT3
Variant:p.F72I

POGLUT3

49 papers

Pfam Domains

Filaminaa 26–131UCSCFilamin/ABP280 repeat
Glyco_transf_90aa 227–367UCSCGlycosyl transferase family 90

Gene Aliases

HGNC Name

protein O-glucosyltransferase 3

HGNC Previous Symbol

KDELC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153705.5
p.F72I
c.214T>A
Surrounding Variants
1 paper
NM_153705.5
p.F72L
c.214T>C
1 paper
NM_153705.5
p.F72L
c.216C>G
1 paper
NM_153705.5
p.F72L
c.216C>A
1 paper
NM_153705.5
p.V85V
c.255C>T
1 paper
NM_153705.5
p.R86W
c.256C>T
1 paper
NM_153705.5
p.D94D
c.282C>T
3 papers
NM_153705.5
p.M102R
c.305T>G
1 paper
NM_153705.5
p.R105K
c.314G>A
3 papers
NM_153705.5
p.P144L
c.431C>T
1 paper
NM_153705.5
p.Q151E
c.451C>G
1 paper
NM_153705.5
p.L154fs
c.460_461fs
3 papers
NM_153705.5
p.K180R
c.539A>G
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