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

1–12 of 191 variants

14 papers

NM_001289104.2

p.D98Splc

c.292+1G>C

8 papers

NM_001289104.2

p.E313del1

c.937_939delGAG

7 papers

NM_001289104.2

p.E125delFs

c.374_375delAG

7 papers

NM_001289104.2

p.R139H

c.416G>A

6 papers

NM_001289104.2

p.R281W

c.841C>T

6 papers

NM_001289104.2

p.Y423*

c.1269C>A

6 papers

NM_001289104.2

p.Y423*

c.1269C>G

5 papers

NM_001289104.2

p.Q254_A255Splc

c.762+2T>C

5 papers

NM_001289104.2

p.A291T

c.871G>A

4 papers

NM_001289104.2

p.N72_G73insFs

c.216_217insA

4 papers

NM_001289104.2

p.K155R

c.464A>G

3 papers

NM_001289104.2

p.E105delFs

c.313delG