Varaico: Literature-Extracted Genetic Variants

PITRM1

153 papers

RefSeq Summary

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 pro...

Pfam Domains

Peptidase_M16aa 93–191UCSCInsulinase (Peptidase family M16)

Peptidase_M16_Caa 244–432UCSCPeptidase M16 inactive domain

M16C_assocaa 504–752UCSCPeptidase M16C associated

M16C_assocaa 620–686UCSCPeptidase M16C associated

PreP_Caa 854–1017UCSCPreP C-terminal domain

Gene Aliases

HGNC Name

pitrilysin metallopeptidase 1

HGNC Alias Symbols

MP1; KIAA1104; hMP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 154 variants

10 papers

NM_014889.4

p.R183Q

c.548G>A

6 papers

NM_014889.4

p.Q91insFs

c.271_272ins25

4 papers

NM_014889.4

p.A397V

c.1190C>T

4 papers

NM_014889.4

p.T931M

c.2792C>T

4 papers

NM_014889.4

p.Q1037R

c.3110A>G

3 papers

NM_014889.4

p.E107Q

c.319G>C

3 papers

NM_014889.4

p.R173C

c.517C>T

3 papers

NM_014889.4

p.I328V

c.982A>G

2 papers

NM_014889.4

p.Q8*

c.22C>T

2 papers

NM_014889.4

p.Q91fs

c.271_272fs

2 papers

NM_014889.4

p.Q91P

c.272A>C

2 papers

NM_014889.4

p.F169S

c.506T>C