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.L78L

c.234G>A

Surrounding Variants

58 papers

NM_003119.4

p.L78*

c.233T>A

1 paper

NM_003119.4

p.G77E

c.230G>A

1 paper

NM_003119.4

p.G77_L78insA

c.229_233ins3

1 paper

NM_003119.4

p.L80insFs

c.239_240insC

1 paper

NM_003119.4

p.L80F

c.240G>C

1 paper

NM_003119.4

p.L80F

c.240G>T

4 papers

NM_003119.4

p.Q82_H83del1

c.246_248delACA

1 paper

NM_003119.4

p.Q82insFs

c.244_245ins5

1 paper

NM_003119.4

p.Q82E

c.244C>G

3 papers

NM_003119.4

p.Q82*

c.244C>T

1 paper

NM_003119.4

p.E73*

c.217G>T

1 paper

NM_003119.4

p.E73fs

c.217_218fs