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.Q568_K569delFs

c.1702_1706del5

Surrounding Variants

1 paper

NM_003119.4

p.E566fs

c.1696_1697fs

1 paper

NM_003119.4

p.K565R

c.1694A>G

2 papers

NM_003119.4

p.Q568delFs

c.1703_1704delAG

1 paper

NM_003119.4

p.Q568fs

c.1702_1703fs

1 paper

NM_003119.4

p.I562M

c.1686C>G

2 papers

NM_003119.4

p.A572T

c.1714G>A

23 papers

NM_003119.4

p.A572V

c.1715C>T

1 paper

NM_003119.4

p.S560fs

c.1678_1679fs

1 paper

NM_003119.4

p.F573delFs

c.1719delT

2 papers

NM_003119.4

p.K559fs

c.1675_1676fs

1 paper

NM_003119.4

p.H574fs

c.1720_1721fs

14 papers

NM_003119.4

p.K558*

c.1672A>T