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

7 papers

NM_001289104.2

p.E125delFs

c.374_375delAG

Surrounding Variants

1 paper

NM_001289104.2

p.E123K

c.367G>A

2 papers

NM_001289104.2

p.E123delFs

c.368delA

1 paper

NM_001289104.2

p.E123G

c.368A>G

1 paper

NM_001289104.2

p.R124delFs

c.371delG

1 paper

NM_001289104.2

p.R124K

c.371G>A

1 paper

NM_001289104.2

p.G120D

c.359G>A

1 paper

NM_001289104.2

p.E125fs

c.373_374fs

3 papers

NM_001289104.2

p.E125fs

c.373_374fs

1 paper

NM_001289104.2

p.G120S

c.358G>A

1 paper

NM_001289104.2

p.E118_K119insFs

c.354_355insA

2 papers

NM_001289104.2

p.E118insFs

c.353_354insA

1 paper

NM_001289104.2

p.K117Splc

c.351-32A>C