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

1 paper

NM_001289104.2

p.D98G

c.293A>G

Surrounding Variants

1 paper

NM_001289104.2

p.C100Y

c.299G>A

1 paper

NM_001289104.2

p.C100*

c.300C>A

1 paper

NM_001289104.2

p.G102*

c.304G>T

1 paper

NM_001289104.2

p.D104H

c.310G>C

3 papers

NM_001289104.2

p.E105delFs

c.313delG

1 paper

NM_001289104.2

p.E105delFs

c.314delA

1 paper

NM_001289104.2

p.V110L

c.328G>C

1 paper

NM_001289104.2

p.V110F

c.328G>T

1 paper

NM_001289104.2

p.V110V

c.330C>A

14 papers

NM_001289104.2

p.D98Splc

c.292+1G>C

1 paper

NM_001289104.2

p.D94Y

c.280G>T

1 paper

NM_001289104.2

p.V92I

c.274G>A