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.T358A

c.1072A>G

Surrounding Variants

1 paper

NM_004279.3

p.N345T

c.1034A>C

2 papers

NM_004279.3

p.A375T

c.1123G>A

1 paper

NM_004279.3

p.W385Splc

c.1154+5G>C

4 papers

NM_004279.3

p.E396D

c.1188G>C

4 papers

NM_004279.3

p.E396D

c.1188G>T

1 paper

NM_004279.3

p.G329E

c.986G>A

1 paper

NM_004279.3

p.R325C

c.973C>T

3 papers

NM_004279.3

p.I422T

c.1265T>C

1 paper

NM_004279.3

p.R441G

c.1321A>G

1 paper

NM_004279.3

p.D443_A444Splc

c.1330-2A>T

1 paper

NM_004279.3

p.N446D

c.1336A>G

1 paper

NM_004279.3

p.R451*

c.1351C>T