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

4 papers

NM_015160.3

p.K126I

c.377A>T

Surrounding Variants

1 paper

NM_015160.3

p.K135N

c.405G>T

1 paper

NM_015160.3

p.Y104H

c.310T>C

1 paper

NM_015160.3

p.K103delFs

c.309delA

1 paper

NM_015160.3

p.S96*

c.287C>A

1 paper

NM_015160.3

p.S96*

c.287C>G

3 papers

NM_015160.3

p.S96L

c.287C>T

1 paper

NM_015160.3

p.L93F

c.277C>T

1 paper

NM_015160.3

p.T89I

c.266C>T

1 paper

NM_015160.3

p.T70T

c.210C>T

1 paper

NM_015160.3

p.T67A

c.199A>G

1 paper

NM_015160.3

p.E66_T67ins6

c.198_199ins18

1 paper

NM_015160.3

p.E63E

c.189A>G