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.D441V

c.1322A>T

Surrounding Variants

1 paper

NM_003119.4

p.D441G

c.1322A>G

1 paper

NM_003119.4

p.D441del1

c.1321_1322delGAT

1 paper

NM_003119.4

p.G442Splc

c.1324+2T>G

1 paper

NM_003119.4

p.E439Q

c.1315G>C

2 papers

NM_003119.4

p.Q431*

c.1291C>T

3 papers

NM_003119.4

p.T427M

c.1280C>T

1 paper

NM_003119.4

p.G423A

c.1268G>C

1 paper

NM_003119.4

p.G423S

c.1267G>A

1 paper

NM_003119.4

p.S422P

c.1264T>C

1 paper

NM_003119.4

p.T419N

c.1256C>A

1 paper

NM_003119.4

p.R417H

c.1250G>A

1 paper

NM_003119.4

p.R417C

c.1249C>T