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

2 papers

NM_003119.4

p.G354R

c.1060G>C

Surrounding Variants

3 papers

NM_003119.4

p.G354R

c.1060G>A

4 papers

NM_003119.4

p.G354A

c.1061G>C

1 paper

NM_003119.4

p.C353fs

c.1057_1058fs

2 papers

NM_003119.4

p.C353_V362delFs

c.1057_1085del29

2 papers

NM_003119.4

p.G352S

c.1054G>A

7 papers

NM_003119.4

p.G352fs

c.1054_1055fs

6 papers

NM_003119.4

p.G352fs

c.1054_1055fs

3 papers

NM_003119.4

p.T356M

c.1067C>T

1 paper

NM_003119.4

p.T356T

c.1068G>A

1 paper

NM_003119.4

p.P351fs

c.1051_1052fs

5 papers

NM_003119.4

p.P350T

c.1048C>A

1 paper

NM_003119.4

p.P350fs

c.1048_1049fs