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

Selected Variant

2 papers

NM_014889.4

p.Q91P

c.272A>C

Surrounding Variants

1 paper

NM_014889.4

p.Q91fs

c.271_272fs

6 papers

NM_014889.4

p.Q91insFs

c.271_272ins25

1 paper

NM_014889.4

p.Q91Q

c.273G>A

2 papers

NM_014889.4

p.Q91fs

c.271_272fs

1 paper

NM_014889.4

p.R93L

c.278G>T

1 paper

NM_014889.4

p.S89Splc

c.267-1G>C

1 paper

NM_014889.4

p.T94T

c.282T>C

1 paper

NM_014889.4

p.M97L

c.289A>T

1 paper

NM_014889.4

p.M97L

c.289A>C

3 papers

NM_014889.4

p.E107Q

c.319G>C

1 paper

NM_014889.4

p.Q115R

c.344A>G

1 paper

NM_014889.4

p.P118L

c.353C>T