Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT3
Variant:p.G375R

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.G375R
c.1123G>A
Surrounding Variants
1 paper
NM_153705.5
p.V373M
c.1117G>A
1 paper
NM_153705.5
p.A379T
c.1135G>A
1 paper
NM_153705.5
p.Y384H
c.1150T>C
1 paper
NM_153705.5
p.S397L
c.1190C>T
1 paper
NM_153705.5
p.Y460*
c.1380C>G
1 paper
NM_153705.5
p.Y460*
c.1380C>A
2 papers
NM_153705.5
p.R310_A311delFs
c.930_931delCT
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
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