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.P85A

c.253C>G

Surrounding Variants

11 papers

NM_145207.3

p.R84Q

c.251G>A

1 paper

NM_145207.3

p.R84L

c.251G>T

3 papers

NM_145207.3

p.R84*

c.250C>T

4 papers

NM_145207.3

p.S90I

c.269G>T

1 paper

NM_145207.3

p.L72F

c.214C>T

4 papers

NM_145207.3

p.A100T

c.298G>A

1 paper

NM_145207.3

p.A104G

c.311C>G

1 paper

NM_145207.3

p.G109_K110delFs

c.327_328delCA

1 paper

NM_145207.3

p.K110fs

c.328_329fs

1 paper

NM_145207.3

p.E115A

c.344A>C

4 papers

NM_145207.3

p.Q132*

c.394C>T

1 paper

NM_145207.3

p.Q132R

c.395A>G