Varaico: Literature-Extracted Genetic Variants

PMPCA

83 papers

RefSeq Summary

The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide fro...

Pfam Domains

Peptidase_M16aa 77–227UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 232–431UCSCPeptidase M16 inactive domain

Gene Aliases

HGNC Name

peptidase, mitochondrial processing subunit alpha

HGNC Previous Symbols

SCAR2; CLA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015160.3

p.E211_A212Splc

c.633+1G>A

Surrounding Variants

2 papers

NM_015160.3

p.E207K

c.619G>A

1 paper

NM_015160.3

p.L195R

c.584T>G

1 paper

NM_015160.3

p.V188V

c.564C>T

3 papers

NM_015160.3

p.R185Q

c.554G>A

1 paper

NM_015160.3

p.R185W

c.553C>T

1 paper

NM_015160.3

p.E211_A212Splc

c.634-266T>G

4 papers

NM_015160.3

p.R223C

c.667C>T

1 paper

NM_015160.3

p.P226S

c.676C>T

1 paper

NM_015160.3

p.K232Q

c.694A>C

1 paper

NM_015160.3

p.Y241S

c.722A>C

1 paper

NM_015160.3

p.Y246*

c.738C>A

1 paper

NM_015160.3

p.Y246*

c.738C>G