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

6 papers

NM_001289104.2

p.R281W

c.841C>T

Surrounding Variants

1 paper

NM_001289104.2

p.E283K

c.847G>A

1 paper

NM_001289104.2

p.A274V

c.821C>T

2 papers

NM_001289104.2

p.R271H

c.812G>A

1 paper

NM_001289104.2

p.Y269*

c.807C>G

1 paper

NM_001289104.2

p.Y269_S282delFs

c.805_845del41

1 paper

NM_001289104.2

p.S267C

c.800C>G

1 paper

NM_001289104.2

p.S267T

c.799T>A

1 paper

NM_001289104.2

p.T266T

c.798C>T

2 papers

NM_001289104.2

p.T261S

c.781A>T

1 paper

NM_001289104.2

p.S258G

c.772A>G

1 paper

NM_001289104.2

p.T287I

c.860C>T

5 papers

NM_001289104.2

p.A291T

c.871G>A