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.H701_E702Splc

c.2103+2T>C

Surrounding Variants

7 papers

NM_003119.4

p.H701P

c.2102A>C

1 paper

NM_003119.4

p.H701L

c.2102A>T

1 paper

NM_003119.4

p.M699T

c.2096T>C

3 papers

NM_003119.4

p.M699fs

c.2095_2096fs

6 papers

NM_003119.4

p.M699insFs

c.2096dupT

3 papers

NM_003119.4

p.M699fs

c.2095_2096fs

4 papers

NM_003119.4

p.Q697P

c.2090A>C

5 papers

NM_003119.4

p.L695P

c.2084T>C

1 paper

NM_003119.4

p.L695Fs

c.2084_2085delinsATGFs

3 papers

NM_003119.4

p.L695V

c.2083C>G

2 papers

NM_003119.4

p.G694D

c.2081G>A

1 paper

NM_003119.4

p.G694_M699del6

c.2080_2096del18