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.E487del1

c.1459_1460delGAG

Surrounding Variants

10 papers

NM_003119.4

p.R486Q

c.1457G>A

2 papers

NM_003119.4

p.R486L

c.1457G>T

4 papers

NM_003119.4

p.R486W

c.1456C>T

1 paper

NM_003119.4

p.E487G

c.1460A>G

2 papers

NM_003119.4

p.R485K

c.1454G>A

1 paper

NM_003119.4

p.R485_I488Fs

c.1454_1462delinsTFs

1 paper

NM_003119.4

p.R485fs

c.1453_1454fs

1 paper

NM_003119.4

p.R485_F489del0

c.1454_1465del12

1 paper

NM_003119.4

p.E484A

c.1451A>C

1 paper

NM_003119.4

p.E484fs

c.1450_1451fs

3 papers

NM_003119.4

p.E484fs

c.1450_1451fs

6 papers

NM_003119.4

p.E484_R486delFs

c.1450_1457del8