Varaico: Literature-Extracted Genetic Variants

PRKCSH

114 papers

RefSeq Summary

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for pro...

Pfam Domains

PRKCSH-likeaa 1–175UCSCGlucosidase II beta subunit-like

EF-hand_5aa 213–236UCSCEF hand

PRKCSH_1aa 373–523UCSCGlucosidase II beta subunit-like protein

Gene Aliases

HGNC Name

PRKCSH beta subunit of glucosidase II

HGNC Previous Symbols

G19P1; PCLD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001289104.2

p.N72_G73insFs

c.216_217insA

Surrounding Variants

1 paper

NM_001289104.2

p.N72fs

c.214_215fs

2 papers

NM_001289104.2

p.N72insFs

c.215_216insA

2 papers

NM_001289104.2

p.S74N

c.221G>A

1 paper

NM_001289104.2

p.F75S

c.224T>C

1 paper

NM_001289104.2

p.A69T

c.205G>A

1 paper

NM_001289104.2

p.A68insFs

c.203_204insC

1 paper

NM_001289104.2

p.T67M

c.200C>T

1 paper

NM_001289104.2

p.T67S

c.199A>T

1 paper

NM_001289104.2

p.G66Splc

c.197-7C>G

1 paper

NM_001289104.2

p.Y82H

c.244T>C

1 paper

NM_001289104.2

p.I87T

c.260T>C

1 paper

NM_001289104.2

p.R91G

c.271C>G