Varaico: Literature-Extracted Genetic Variants

AFG2A

100 papers

RefSeq Summary

This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellula...

Pfam Domains

AAAaa 390–523UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 546–589UCSCAAA+ lid domain

AAAaa 664–796UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 818–864UCSCAAA+ lid domain

Gene Aliases

HGNC Name

AAA ATPase AFG2A

HGNC Previous Symbol

SPATA5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145207.3

p.T182delFs

c.544delA

Surrounding Variants

1 paper

NM_145207.3

p.Y184C

c.551A>G

6 papers

NM_145207.3

p.G185E

c.554G>A

6 papers

NM_145207.3

p.R186*

c.556C>T

1 paper

NM_145207.3

p.A214insFs

c.642dupC

1 paper

NM_145207.3

p.M217V

c.649A>G

2 papers

NM_145207.3

p.E230Q

c.688G>C

2 papers

NM_145207.3

p.Q234*

c.700C>T

1 paper

NM_145207.3

p.L283Q

c.848T>A

1 paper

NM_145207.3

p.L303H

c.908T>A

4 papers

NM_145207.3

p.F323I

c.967T>A

1 paper

NM_145207.3

p.Y324F

c.971A>T

1 paper

NM_145207.3

p.S327_S328del2

c.979_983del6