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

3 papers

NM_003119.4

p.V654fs

c.1960_1961fs

Surrounding Variants

3 papers

NM_003119.4

p.V654_T655delFs

c.1960_1963del4

1 paper

NM_003119.4

p.I657V

c.1969A>G

1 paper

NM_003119.4

p.L651L

c.1951C>T

7 papers

NM_003119.4

p.D650N

c.1948G>A

6 papers

NM_003119.4

p.A658T

c.1972G>A

2 papers

NM_003119.4

p.A647E

c.1940C>A

1 paper

NM_003119.4

p.A647V

c.1940C>T

1 paper

NM_003119.4

p.A647fs

c.1939_1940fs

1 paper

NM_003119.4

p.A647S

c.1939G>T

5 papers

NM_003119.4

p.M661T

c.1982T>C

2 papers

NM_003119.4

p.G646Splc

c.1937-1G>C

2 papers

NM_003119.4

p.V662fs

c.1984_1985fs