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.P300S

c.898C>T

Surrounding Variants

1 paper

NM_001289104.2

p.K301insFs

c.902dupA

1 paper

NM_001289104.2

p.E302fs

c.904_905fs

1 paper

NM_001289104.2

p.P295S

c.883C>T

2 papers

NM_001289104.2

p.P306S

c.916C>T

1 paper

NM_001289104.2

p.V307L

c.919G>T

5 papers

NM_001289104.2

p.A291T

c.871G>A

1 paper

NM_001289104.2

p.P311P

c.933C>A

1 paper

NM_001289104.2

p.P311P

c.933C>G

2 papers

NM_001289104.2

p.E319ins1

c.956_957insGGA

1 paper

NM_001289104.2

p.E320_E323ins1

c.960_968dup9

8 papers

NM_001289104.2

p.E313del1

c.937_939delGAG

1 paper

NM_001289104.2

p.E313_E314del0

c.937_942del6