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

1 paper

NM_003119.4

p.Y406C

c.1217A>G

Surrounding Variants

1 paper

NM_003119.4

p.V405_I407delFs

c.1215_1219del5

2 papers

NM_003119.4

p.E409_I410delFs

c.1225_1229del5

2 papers

NM_003119.4

p.D408N

c.1222G>A

4 papers

NM_003119.4

p.D408E

c.1224T>A

4 papers

NM_003119.4

p.D408E

c.1224T>G

1 paper

NM_003119.4

p.E409fs

c.1225_1226fs

3 papers

NM_003119.4

p.E409A

c.1226A>C

1 paper

NM_003119.4

p.E409G

c.1226A>G

1 paper

NM_003119.4

p.P402A

c.1204C>G

4 papers

NM_003119.4

p.D411N

c.1231G>A

12 papers

NM_003119.4

p.D411A

c.1232A>C

3 papers

NM_003119.4

p.D411V

c.1232A>T