Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT3
Variant:p.R310_A311delFs

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
2 papers
NM_153705.5
p.R310_A311delFs
c.930_931delCT
Surrounding Variants
1 paper
NM_153705.5
p.R310fs
c.928_929fs
1 paper
NM_153705.5
p.N299D
c.895A>G
1 paper
NM_153705.5
p.L293F
c.877C>T
1 paper
NM_153705.5
p.R269T
c.806G>C
1 paper
NM_153705.5
p.C263S
c.788G>C
1 paper
NM_153705.5
p.C263S
c.787T>A
1 paper
NM_153705.5
p.T253A
c.757A>G
1 paper
NM_153705.5
p.G252R
c.754G>C
1 paper
NM_153705.5
p.G252R
c.754G>A
1 paper
NM_153705.5
p.R248Q
c.743G>A
1 paper
NM_153705.5
p.V373M
c.1117G>A
1 paper
NM_153705.5
p.G375R
c.1123G>A
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