Varaico: Literature-Extracted Genetic Variants

PMPCB

69 papers

RefSeq Summary

This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides...

Pfam Domains

Peptidase_M16aa 68–215UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 220–404UCSCPeptidase M16 inactive domain

Gene Aliases

HGNC Name

peptidase, mitochondrial processing subunit beta

HGNC Alias Symbols

MPPB; MPPP52; beta-MPP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004279.3

p.S65N

c.194G>A

Surrounding Variants

1 paper

NM_004279.3

p.T58R

c.173C>G

1 paper

NM_004279.3

p.G82A

c.245G>C

1 paper

NM_004279.3

p.R17W

c.49C>T

1 paper

NM_004279.3

p.S11*

c.32C>A

1 paper

NM_004279.3

p.S11*

c.32C>G

3 papers

NM_004279.3

p.A3V

c.8C>T

1 paper

NM_004279.3

p.M126I

c.378G>A

1 paper

NM_004279.3

p.M126I

c.378G>C

1 paper

NM_004279.3

p.M126I

c.378G>T

1 paper

NM_004279.3

p.R152S

c.456A>C

1 paper

NM_004279.3

p.R152S

c.456A>T

1 paper

NM_004279.3

p.A153T

c.457G>A