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.R508H

c.1523G>A

Surrounding Variants

6 papers

NM_003119.4

p.Q507*

c.1519C>T

1 paper

NM_003119.4

p.A510delins

c.1528_1529delinsTT

1 paper

NM_003119.4

p.A510E

c.1529C>A

190 papers

NM_003119.4

p.A510V

c.1529C>T

1 paper

NM_003119.4

p.Y505H

c.1513T>C

1 paper

NM_003119.4

p.F504L

c.1512T>A

1 paper

NM_003119.4

p.L512P

c.1535T>C

1 paper

NM_003119.4

p.L512L

c.1536G>T

16 papers

NM_003119.4

p.T503A

c.1507A>G

1 paper

NM_003119.4

p.T503_F504del2

c.1507_1511del6

1 paper

NM_003119.4

p.P514L

c.1541C>T

1 paper

NM_003119.4

p.G515E

c.1544G>A