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.K142N

c.426G>T

Surrounding Variants

1 paper

NM_001289104.2

p.K142M

c.425A>T

7 papers

NM_001289104.2

p.R139H

c.416G>A

1 paper

NM_001289104.2

p.R139C

c.415C>T

1 paper

NM_001289104.2

p.W148*

c.443G>A

1 paper

NM_001289104.2

p.W148*

c.444G>A

1 paper

NM_001289104.2

p.K149M

c.446A>T

2 papers

NM_001289104.2

p.R152W

c.454C>T

1 paper

NM_001289104.2

p.E154K

c.460G>A

4 papers

NM_001289104.2

p.K155R

c.464A>G

2 papers

NM_001289104.2

p.Q156*

c.466C>T

1 paper

NM_001289104.2

p.E125fs

c.373_374fs

3 papers

NM_001289104.2

p.E125fs

c.373_374fs