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

5 papers

NM_015160.3

p.G515R

c.1543G>C

Surrounding Variants

4 papers

NM_015160.3

p.G515R

c.1543G>A

1 paper

NM_015160.3

p.R516H

c.1547G>A

2 papers

NM_015160.3

p.R519G

c.1555A>G

1 paper

NM_015160.3

p.E475D

c.1425A>C

1 paper

NM_015160.3

p.E475D

c.1425A>T

1 paper

NM_015160.3

p.R470Splc

c.1408+9C>T

1 paper

NM_015160.3

p.R470Splc

c.1408+1G>A

1 paper

NM_015160.3

p.R470C

c.1408C>T

1 paper

NM_015160.3

p.L468_I469del2

c.1402_1406del6

1 paper

NM_015160.3

p.A455T

c.1363G>A

1 paper

NM_015160.3

p.R402*

c.1204C>T

1 paper

NM_015160.3

p.A377V

c.1130C>T