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.L498fs

c.1492_1493fs

Surrounding Variants

1 paper

NM_003119.4

p.L498insFs

c.1493_1494insT

2 papers

NM_003119.4

p.T499delFs

c.1496delC

1 paper

NM_003119.4

p.L496insFs

c.1486_1487insGG

1 paper

NM_003119.4

p.Q500fs

c.1498_1499fs

1 paper

NM_003119.4

p.S495_L496insFs

c.1485_1486insGG

1 paper

NM_003119.4

p.S495fs

c.1483_1484fs

1 paper

NM_003119.4

p.K494_S495delFs

c.1482_1483delGA

1 paper

NM_003119.4

p.T503_F504del2

c.1507_1511del6

16 papers

NM_003119.4

p.T503A

c.1507A>G

1 paper

NM_003119.4

p.H492D

c.1474C>G

1 paper

NM_003119.4

p.F504L

c.1512T>A

1 paper

NM_003119.4

p.Q491*

c.1471C>T