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.K593_V594Splc

c.1779+1G>T

Surrounding Variants

3 papers

NM_003119.4

p.K593*

c.1777A>T

2 papers

NM_003119.4

p.A590A

c.1770C>T

1 paper

NM_003119.4

p.T588T

c.1764G>A

4 papers

NM_003119.4

p.T588M

c.1763C>T

2 papers

NM_003119.4

p.E586*

c.1756G>T

1 paper

NM_003119.4

p.L585_E586delFs

c.1755_1758del4

6 papers

NM_003119.4

p.W583C

c.1749G>C

6 papers

NM_003119.4

p.W583C

c.1749G>T

1 paper

NM_003119.4

p.M584del1

c.1750_1752delATG

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.G582D

c.1745G>A