Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT3
Variant:p.K180R

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
3 papers
NM_153705.5
p.K180R
c.539A>G
Surrounding Variants
1 paper
NM_153705.5
p.E189G
c.566A>G
1 paper
NM_153705.5
p.T197M
c.590C>T
1 paper
NM_153705.5
p.H202Q
c.606T>G
1 paper
NM_153705.5
p.H202Q
c.606T>A
1 paper
NM_153705.5
p.V203V
c.609T>C
1 paper
NM_153705.5
p.L154fs
c.460_461fs
1 paper
NM_153705.5
p.Q151E
c.451C>G
3 papers
NM_153705.5
p.P144L
c.431C>T
1 paper
NM_153705.5
p.S224*
c.671C>G
1 paper
NM_153705.5
p.S224*
c.671C>A
1 paper
NM_153705.5
p.R248Q
c.743G>A
1 paper
NM_153705.5
p.G252R
c.754G>C
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