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

1 paper

NM_015160.3

p.V274delFs

c.820delG

Surrounding Variants

1 paper

NM_015160.3

p.R268W

c.802C>T

1 paper

NM_015160.3

p.A281V

c.842C>T

1 paper

NM_015160.3

p.E261K

c.781G>A

3 papers

NM_015160.3

p.D285delFs

c.853delG

1 paper

NM_015160.3

p.V258M

c.772G>A

7 papers

NM_015160.3

p.V256M

c.766G>A

1 paper

NM_015160.3

p.V290insFs

c.868_869insT

2 papers

NM_015160.3

p.M251V

c.751A>G

1 paper

NM_015160.3

p.R250R

c.750C>G

1 paper

NM_015160.3

p.T294I

c.881C>T

1 paper

NM_015160.3

p.Y246*

c.738C>A

1 paper

NM_015160.3

p.Y246*

c.738C>G