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.L580F

c.1740G>C

Surrounding Variants

1 paper

NM_003119.4

p.L580F

c.1740G>T

5 papers

NM_003119.4

p.V581_G582del1

c.1742_1744delTGG

1 paper

NM_003119.4

p.G582D

c.1745G>A

1 paper

NM_003119.4

p.W583R

c.1747T>A

1 paper

NM_003119.4

p.W583R

c.1747T>C

1 paper

NM_003119.4

p.M584del1

c.1750_1752delATG

6 papers

NM_003119.4

p.W583C

c.1749G>C

6 papers

NM_003119.4

p.W583C

c.1749G>T

4 papers

NM_003119.4

p.G577D

c.1730G>A

1 paper

NM_003119.4

p.G577A

c.1730G>C

7 papers

NM_003119.4

p.G577S

c.1729G>A

3 papers

NM_003119.4

p.G577R

c.1729G>C