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

2 papers

NM_003119.4

p.G384fs

c.1150_1151fs

Surrounding Variants

1 paper

NM_003119.4

p.G384Splc

c.1151-7C>T

1 paper

NM_003119.4

p.A388_L393insFs

c.1162_1177dup16

1 paper

NM_003119.4

p.R389delFs

c.1165delC

1 paper

NM_003119.4

p.R389fs

c.1165_1166fs

2 papers

NM_003119.4

p.R389G

c.1165C>G

2 papers

NM_003119.4

p.V390A

c.1169T>C

1 paper

NM_003119.4

p.V390G

c.1169T>G

1 paper

NM_003119.4

p.R391W

c.1171C>T

1 paper

NM_003119.4

p.R391L

c.1172G>T

2 papers

NM_003119.4

p.F394S

c.1181T>C

14 papers

NM_003119.4

p.R398*

c.1192C>T

2 papers

NM_003119.4

p.R398Q

c.1193G>A