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.Q88*

c.262C>T

Surrounding Variants

1 paper

NM_024089.3

p.R92*

c.274C>T

1 paper

NM_024089.3

p.R92Q

c.275G>A

1 paper

NM_024089.3

p.Q81*

c.241C>T

4 papers

NM_024089.3

p.I114V

c.340A>G

1 paper

NM_024089.3

p.G130Splc

c.388+2T>G

1 paper

NM_024089.3

p.G130Splc

c.388+2T>C

1 paper

NM_024089.3

p.Q53*

c.157C>T

1 paper

NM_024089.3

p.F50_Y51delFs

c.150_153del4

1 paper

NM_024089.3

p.R48H

c.143G>A

1 paper

NM_024089.3

p.E24V

c.71A>T

1 paper

NM_024089.3

p.G3V

c.8G>T

1 paper

NM_024089.3

p.P131S

c.391C>T