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.I355T

c.1064T>C

Surrounding Variants

1 paper

NM_145207.3

p.G356E

c.1067G>A

1 paper

NM_145207.3

p.D353V

c.1058A>T

1 paper

NM_145207.3

p.G357E

c.1070G>A

1 paper

NM_145207.3

p.D345G

c.1034A>G

1 paper

NM_145207.3

p.V332I

c.994G>A

1 paper

NM_145207.3

p.K380R

c.1139A>G

16 papers

NM_145207.3

p.T330del1

c.988_989delACA

1 paper

NM_145207.3

p.S327_S328del2

c.979_983del6

1 paper

NM_145207.3

p.Y324F

c.971A>T

4 papers

NM_145207.3

p.F323I

c.967T>A

1 paper

NM_145207.3

p.L303H

c.908T>A

1 paper

NM_145207.3

p.L283Q

c.848T>A