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.Q61_S62Splc

c.184-1G>A

Surrounding Variants

1 paper

NM_003119.4

p.S62_L63ins5

c.184_188ins15

1 paper

NM_003119.4

p.Q61_S62Splc

c.184-2A>C

2 papers

NM_003119.4

p.Q61_S62Splc

c.184-3C>T

1 paper

NM_003119.4

p.L63L

c.189A>G

1 paper

NM_003119.4

p.L65_T69del5

c.193_206del15

1 paper

NM_003119.4

p.R66K

c.197G>A

1 paper

NM_003119.4

p.L68L

c.204A>C

1 paper

NM_003119.4

p.T69_T71del3

c.205_212del9

2 papers

NM_003119.4

p.P70A

c.208C>G

4 papers

NM_003119.4

p.P70H

c.209C>A

1 paper

NM_003119.4

p.F72insFs

c.216dupT

1 paper

NM_003119.4

p.F72_E73insFs

c.216_217dupTG