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

3 papers

NM_002743.3

p.Y423*

c.1269C>A

NM_001289104.2

p.Y430*

c.1290C>A

Surrounding Variants

3 papers

NM_002743.3

p.Y423*

c.1269C>G

NM_001289104.2

p.Y430*

c.1290C>G

1 paper

NM_001289104.2

p.V431A

c.1292T>C

1 paper

NM_001289104.2

p.G447delFs

c.1340delG

1 paper

NM_001289104.2

p.G447fs

c.1339_1340fs

1 paper

NM_001289104.2

p.S449insFs

c.1345_1346ins7

2 papers

NM_002743.3

p.L446delFs

c.1336delC

1 paper

NM_001289104.2

p.L453P

c.1358T>C

3 papers

NM_002743.3

p.G447Splc

c.1341-2A>G

1 paper

NM_002743.3

p.G447Splc

c.1341-1G>A

1 paper

NM_001289104.2

p.T455N

c.1364C>A

1 paper

NM_002743.3

p.I453V

c.1357A>G

1 paper

NM_001289104.2

p.K466R

c.1397A>G