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

4 papers

NM_014889.4

p.Q1037R

c.3110A>G

Surrounding Variants

1 paper

NM_014889.4

p.V1004M

c.3010G>A

1 paper

NM_014889.4

p.S982L

c.2945C>T

1 paper

NM_014889.4

p.D964N

c.2890G>A

1 paper

NM_014889.4

p.L957_S958insTG

c.2869_2873ins6

1 paper

NM_014889.4

p.D953E

c.2859C>G

1 paper

NM_014889.4

p.Q950_I952del0

c.2850_2855del6

1 paper

NM_014889.4

p.S944F

c.2831C>T

2 papers

NM_014889.4

p.D940N

c.2818G>A

4 papers

NM_014889.4

p.T931M

c.2792C>T

1 paper

NM_014889.4

p.A905T

c.2713G>A

1 paper

NM_014889.4

p.G904R

c.2710G>C

1 paper

NM_014889.4

p.I899V

c.2695A>G