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

1–12 of 50 variants

6 papers

NM_004279.3

p.R175H

c.524G>A

4 papers

NM_004279.3

p.R175C

c.523C>T

4 papers

NM_004279.3

p.E396D

c.1188G>C

4 papers

NM_004279.3

p.E396D

c.1188G>T

3 papers

NM_004279.3

p.A3V

c.8C>T

3 papers

NM_004279.3

p.A201P

c.601G>C

3 papers

NM_004279.3

p.I422T

c.1265T>C

2 papers

NM_004279.3

p.V177G

c.530T>G

2 papers

NM_004279.3

p.A375T

c.1123G>A

1 paper

NM_004279.3

p.S11*

c.32C>A

1 paper

NM_004279.3

p.S11*

c.32C>G

1 paper

NM_004279.3

p.R17W

c.49C>T