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.L683F

c.2047C>T

Surrounding Variants

1 paper

NM_003119.4

p.A679A

c.2037G>A

1 paper

NM_003119.4

p.R688G

c.2062C>G

2 papers

NM_003119.4

p.R688W

c.2062C>T

1 paper

NM_003119.4

p.R688delins

c.2062_2063delinsTA

17 papers

NM_003119.4

p.R688Q

c.2063G>A

1 paper

NM_003119.4

p.R688R

c.2064G>A

1 paper

NM_003119.4

p.R689S

c.2065C>A

4 papers

NM_003119.4

p.F676L

c.2028C>A

1 paper

NM_003119.4

p.F676_P677insFs

c.2028_2029insA

4 papers

NM_003119.4

p.F676L

c.2028C>G

1 paper

NM_003119.4

p.P690delFs

c.2070delC

4 papers

NM_003119.4

p.F676L

c.2026T>C