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.A339G

c.1016C>G

Surrounding Variants

2 papers

NM_003119.4

p.A339D

c.1016C>A

1 paper

NM_003119.4

p.K340E

c.1018A>G

5 papers

NM_003119.4

p.G338V

c.1013G>T

2 papers

NM_003119.4

p.K343E

c.1027A>G

1 paper

NM_003119.4

p.L335_Q336insTA

c.1003_1007ins6

8 papers

NM_003119.4

p.G344D

c.1031G>A

2 papers

NM_003119.4

p.G344G

c.1032C>T

2 papers

NM_003119.4

p.A345P

c.1033G>C

1 paper

NM_003119.4

p.L347_L348ins0

c.1041_1043dupGCT

1 paper

NM_003119.4

p.R333C

c.997C>T

3 papers

NM_003119.4

p.L346_L347ins11

c.1036_1040ins33

1 paper

NM_003119.4

p.L346L

c.1036C>T