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

1 paper

NM_014889.4

p.V162M

c.484G>A

Surrounding Variants

2 papers

NM_014889.4

p.F169S

c.506T>C

1 paper

NM_014889.4

p.A166_F169del0

c.498_506del9

3 papers

NM_014889.4

p.R173C

c.517C>T

1 paper

NM_014889.4

p.D176_F177ins7

c.526_530ins21

1 paper

NM_014889.4

p.D176A

c.527A>C

1 paper

NM_014889.4

p.L172_F177del6

c.514_530del18

1 paper

NM_014889.4

p.S141T

c.422G>C

1 paper

NM_014889.4

p.R183P

c.548G>C

10 papers

NM_014889.4

p.R183Q

c.548G>A

1 paper

NM_014889.4

p.E185K

c.553G>A

1 paper

NM_014889.4

p.E185A

c.554A>C

1 paper

NM_014889.4

p.E185D

c.555A>T