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.Y450*

c.1350C>A

Surrounding Variants

1 paper

NM_014889.4

p.G459A

c.1376G>C

1 paper

NM_014889.4

p.F493I

c.1477T>A

1 paper

NM_014889.4

p.R424Q

c.1271G>A

1 paper

NM_014889.4

p.L407F

c.1219C>T

4 papers

NM_014889.4

p.A397V

c.1190C>T

1 paper

NM_014889.4

p.F389V

c.1165T>G

1 paper

NM_014889.4

p.K494_N495Splc

c.1483-1G>T

1 paper

NM_014889.4

p.T501I

c.1502C>T

1 paper

NM_014889.4

p.H498_P506del9

c.1492_1517del27

2 papers

NM_014889.4

p.Q516H

c.1548G>T

2 papers

NM_014889.4

p.Q516H

c.1548G>C

1 paper

NM_014889.4

p.K525_V526del2

c.1573_1577del6