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

1–12 of 804 variants

190 papers

NM_003119.4

p.A510V

c.1529C>T

58 papers

NM_003119.4

p.L78*

c.233T>A

49 papers

NM_003119.4

p.G349S

c.1045G>A

32 papers

NM_003119.4

p.R485_I488del0

c.1454_1462del9

23 papers

NM_003119.4

p.A572V

c.1715C>T

17 papers

NM_003119.4

p.R688Q

c.2063G>A

16 papers

NM_003119.4

p.P351insFs

c.1053dupC

16 papers

NM_003119.4

p.T503A

c.1507A>G

16 papers

NM_003119.4

p.I743T

c.2228T>C

15 papers

NM_003119.4

p.G518Splc

c.1552+1G>T

14 papers

NM_003119.4

p.R398*

c.1192C>T

14 papers

NM_003119.4

p.K558*

c.1672A>T