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.A372V

c.1115C>T

Surrounding Variants

1 paper

NM_003119.4

p.L371L

c.1111C>T

1 paper

NM_003119.4

p.G375A

c.1124G>C

1 paper

NM_003119.4

p.F378Y

c.1133T>A

1 paper

NM_003119.4

p.A366T

c.1096G>A

1 paper

NM_003119.4

p.V379M

c.1135G>A

1 paper

NM_003119.4

p.A366_G375delFs

c.1098_1125del28

1 paper

NM_003119.4

p.E365K

c.1093G>A

2 papers

NM_003119.4

p.E380Q

c.1138G>C

1 paper

NM_003119.4

p.V381V

c.1143C>T

4 papers

NM_003119.4

p.G383*

c.1147G>T

1 paper

NM_003119.4

p.A361V

c.1082C>T

1 paper

NM_003119.4

p.A361_V362delFs

c.1082_1085del4