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.Q8*

c.22C>T

Surrounding Variants

1 paper

NM_014889.4

p.R7_Q8delins

c.21_22delinsCT

1 paper

NM_014889.4

p.Q8R

c.23A>G

1 paper

NM_014889.4

p.C11S

c.31T>A

1 paper

NM_014889.4

p.C11S

c.32G>C

1 paper

NM_014889.4

p.C4*

c.12C>A

1 paper

NM_014889.4

p.C4S

c.10T>A

1 paper

NM_014889.4

p.V12L

c.34G>T

1 paper

NM_014889.4

p.V12M

c.34G>A

1 paper

NM_014889.4

p.R3R

c.9C>A

1 paper

NM_014889.4

p.V12V

c.36G>C

1 paper

NM_014889.4

p.R3S

c.7C>A

1 paper

NM_014889.4

p.L13Q

c.38T>A