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

1–12 of 82 variants

9 papers

NM_015160.3

p.A377T

c.1129G>A

7 papers

NM_015160.3

p.V256M

c.766G>A

6 papers

NM_015160.3

p.G356S

c.1066G>A

5 papers

NM_015160.3

p.G515R

c.1543G>C

4 papers

NM_015160.3

p.K126I

c.377A>T

4 papers

NM_015160.3

p.R223C

c.667C>T

4 papers

NM_015160.3

p.G515R

c.1543G>A

3 papers

NM_015160.3

p.S96L

c.287C>T

3 papers

NM_015160.3

p.A155V

c.464C>T

3 papers

NM_015160.3

p.R185Q

c.554G>A

3 papers

NM_015160.3

p.E211_A212Splc

c.633+1G>A

3 papers

NM_015160.3

p.D285delFs

c.853delG