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

9 papers

NM_015160.3

p.A377T

c.1129G>A

Surrounding Variants

1 paper

NM_015160.3

p.A377V

c.1130C>T

1 paper

NM_015160.3

p.H371N

c.1111C>A

1 paper

NM_015160.3

p.V367M

c.1099G>A

1 paper

NM_015160.3

p.N366K

c.1098C>A

1 paper

NM_015160.3

p.N366K

c.1098C>G

1 paper

NM_015160.3

p.R402*

c.1204C>T

6 papers

NM_015160.3

p.G356S

c.1066G>A

2 papers

NM_015160.3

p.F350F

c.1050C>T

1 paper

NM_015160.3

p.M344I

c.1032G>A

1 paper

NM_015160.3

p.M344I

c.1032G>C

1 paper

NM_015160.3

p.M344I

c.1032G>T

1 paper

NM_015160.3

p.P311L

c.932C>T