Varaico: Literature-Extracted Genetic Variants

POGLUT2

30 papers

RefSeq Summary

This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL ...

Pfam Domains

Filaminaa 26–127UCSCFilamin/ABP280 repeat

Glyco_transf_90aa 148–500UCSCGlycosyl transferase family 90

Gene Aliases

HGNC Name

protein O-glucosyltransferase 2

HGNC Previous Symbol

KDELC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024089.3

p.Y192*

c.576C>G

Surrounding Variants

1 paper

NM_024089.3

p.Y192*

c.576C>A

1 paper

NM_024089.3

p.K198E

c.592A>G

1 paper

NM_024089.3

p.G184*

c.550G>T

1 paper

NM_024089.3

p.E150_C153del4

c.448_458del12

1 paper

NM_024089.3

p.M151I

c.453G>T

1 paper

NM_024089.3

p.M151I

c.453G>C

1 paper

NM_024089.3

p.M151I

c.453G>A

1 paper

NM_024089.3

p.W147*

c.441G>A

1 paper

NM_024089.3

p.W147*

c.440G>A

1 paper

NM_024089.3

p.S144R

c.432T>G

1 paper

NM_024089.3

p.S144R

c.432T>A

1 paper

NM_024089.3

p.S144R

c.430A>C