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.S390insFs

c.1170dupG

Surrounding Variants

3 papers

NM_001289104.2

p.S390insFs

c.1168_1169insC

1 paper

NM_001289104.2

p.R389W

c.1165C>T

1 paper

NM_002743.3

p.E381K

c.1141G>A

1 paper

NM_001289104.2

p.E388*

c.1162G>T

1 paper

NM_001289104.2

p.E396*

c.1186G>T

2 papers

NM_002743.3

p.S390insFs

c.1168_1169insC

1 paper

NM_001289104.2

p.Q403H

c.1209A>C

1 paper

NM_001289104.2

p.Q403H

c.1209A>T

1 paper

NM_001289104.2

p.E404Q

c.1210G>C

1 paper

NM_001289104.2

p.F415C

c.1244T>G

1 paper

NM_001289104.2

p.S420G

c.1258A>G

2 papers

NM_002743.3

p.Q414*

c.1240C>T

NM_001289104.2

p.Q421*

c.1261C>T