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.Q761Q

c.2283G>A

Surrounding Variants

2 papers

NM_003119.4

p.P760P

c.2280G>A

1 paper

NM_003119.4

p.W763*

c.2288G>A

1 paper

NM_003119.4

p.W763*

c.2289G>A

5 papers

NM_003119.4

p.A759T

c.2275G>A

4 papers

NM_003119.4

p.I764I

c.2292C>T

3 papers

NM_003119.4

p.D765N

c.2293G>A

1 paper

NM_003119.4

p.A766T

c.2296G>A

5 papers

NM_003119.4

p.M757delFs

c.2271delG

3 papers

NM_003119.4

p.M757fs

c.2269_2270fs

1 paper

NM_003119.4

p.Q767E

c.2299C>G

1 paper

NM_003119.4

p.K755E

c.2263A>G

1 paper

NM_003119.4

p.R768R

c.2304G>A