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

4 papers

NM_003119.4

p.P749L

c.2246C>T

Surrounding Variants

6 papers

NM_003119.4

p.P750L

c.2249C>T

3 papers

NM_003119.4

p.I747T

c.2240T>C

2 papers

NM_003119.4

p.H752D

c.2254C>G

2 papers

NM_003119.4

p.P754L

c.2261C>T

1 paper

NM_003119.4

p.K755E

c.2263A>G

16 papers

NM_003119.4

p.I743T

c.2228T>C

1 paper

NM_003119.4

p.I743insFs

c.2228_2229insA

2 papers

NM_003119.4

p.D742G

c.2225A>G

3 papers

NM_003119.4

p.D742N

c.2224G>A

3 papers

NM_003119.4

p.M757fs

c.2269_2270fs

5 papers

NM_003119.4

p.M757delFs

c.2271delG

3 papers

NM_003119.4

p.E741K

c.2221G>A