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

2 papers

NM_001289104.2

p.T236T

c.708T>A

Surrounding Variants

2 papers

NM_001289104.2

p.H237D

c.709C>G

1 paper

NM_001289104.2

p.T236S

c.707C>G

1 paper

NM_001289104.2

p.Q235R

c.704A>G

3 papers

NM_001289104.2

p.P238L

c.713C>T

1 paper

NM_001289104.2

p.E239K

c.715G>A

1 paper

NM_001289104.2

p.E233Q

c.697G>C

1 paper

NM_001289104.2

p.T242T

c.726A>T

1 paper

NM_001289104.2

p.A251T

c.751G>A

1 paper

NM_001289104.2

p.A253D

c.758C>A

5 papers

NM_001289104.2

p.Q254_A255Splc

c.762+2T>C

1 paper

NM_001289104.2

p.S258G

c.772A>G

2 papers

NM_001289104.2

p.T261S

c.781A>T