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.A345S

c.1033G>T

Surrounding Variants

1 paper

NM_001289104.2

p.P347L

c.1040C>T

1 paper

NM_001289104.2

p.P347P

c.1041G>A

1 paper

NM_001289104.2

p.P352S

c.1054C>T

1 paper

NM_001289104.2

p.E359G

c.1076A>G

1 paper

NM_002743.3

p.E353_D354insA

c.1057_1061ins3

1 paper

NM_001289104.2

p.P364S

c.1090C>T

1 paper

NM_001289104.2

p.K343_E344Splc

c.1029+4C>T

1 paper

NM_001289104.2

p.I374_D375del2

c.1120_1124del6

1 paper

NM_001289104.2

p.V337E

c.1010T>A

1 paper

NM_001289104.2

p.V337M

c.1009G>A

1 paper

NM_001289104.2

p.E329*

c.985G>T

1 paper

NM_001289104.2

p.E327insFs

c.981dupA