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.S576L

c.1727C>T

Surrounding Variants

8 papers

NM_003119.4

p.S576W

c.1727C>G

7 papers

NM_003119.4

p.G577S

c.1729G>A

3 papers

NM_003119.4

p.G577R

c.1729G>C

4 papers

NM_003119.4

p.G577D

c.1730G>A

1 paper

NM_003119.4

p.G577A

c.1730G>C

2 papers

NM_003119.4

p.E575Q

c.1723G>C

1 paper

NM_003119.4

p.H574fs

c.1720_1721fs

1 paper

NM_003119.4

p.F573delFs

c.1719delT

5 papers

NM_003119.4

p.V581_G582del1

c.1742_1744delTGG

23 papers

NM_003119.4

p.A572V

c.1715C>T

2 papers

NM_003119.4

p.A572T

c.1714G>A

1 paper

NM_003119.4

p.L580F

c.1740G>C