Varaico: Literature-Extracted Genetic Variants

SPG7

707 papers

RefSeq Summary

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes includi...

Pfam Domains

FtsH_extaa 142–242UCSCFtsH Extracellular

AAAaa 345–479UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 506–547UCSCAAA+ lid domain

Peptidase_M41aa 561–746UCSCPeptidase family M41

Gene Aliases

HGNC Name

SPG7 matrix AAA peptidase subunit, paraplegin

HGNC Previous Symbol

CMAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_003119.4

p.P351insFs

c.1053dupC

Surrounding Variants

1 paper

NM_003119.4

p.G349A

c.1046G>C

3 papers

NM_003119.4

p.P351delFs

c.1053delC

49 papers

NM_003119.4

p.G349S

c.1045G>A

2 papers

NM_003119.4

p.G349insFs

c.1045_1046insC

2 papers

NM_003119.4

p.G349fs

c.1045_1046fs

2 papers

NM_003119.4

p.G349fs

c.1045_1046fs

5 papers

NM_003119.4

p.P350T

c.1048C>A

1 paper

NM_003119.4

p.L348_G349ins1

c.1044_1045insGCT

1 paper

NM_003119.4

p.P350fs

c.1048_1049fs

4 papers

NM_003119.4

p.P350S

c.1048C>T

2 papers

NM_003119.4

p.P350fs

c.1048_1049fs

1 paper

NM_003119.4

p.G349_L357delFs

c.1046_1071del26