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.E63E

c.189A>G

Surrounding Variants

1 paper

NM_015160.3

p.E66_T67ins6

c.198_199ins18

1 paper

NM_015160.3

p.D60_G61ins6

c.180_181ins18

1 paper

NM_015160.3

p.T67A

c.199A>G

1 paper

NM_015160.3

p.T70T

c.210C>T

1 paper

NM_015160.3

p.P52P

c.156C>T

1 paper

NM_015160.3

p.S46P

c.136T>C

1 paper

NM_015160.3

p.I42I

c.126C>T

1 paper

NM_015160.3

p.T89I

c.266C>T

1 paper

NM_015160.3

p.S35S

c.105T>C

1 paper

NM_015160.3

p.L93F

c.277C>T

1 paper

NM_015160.3

p.S96*

c.287C>A

1 paper

NM_015160.3

p.S96*

c.287C>G