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

5 papers

NM_145207.3

p.S448L

c.1343C>T

Surrounding Variants

1 paper

NM_145207.3

p.E454Q

c.1360G>C

1 paper

NM_145207.3

p.P460L

c.1379C>T

1 paper

NM_145207.3

p.E470fs

c.1408_1409fs

1 paper

NM_145207.3

p.R472T

c.1415G>C

1 paper

NM_145207.3

p.R445Splc

c.1334+132G>C

1 paper

NM_145207.3

p.R445*

c.1333C>T

1 paper

NM_145207.3

p.E422K

c.1264G>A

1 paper

NM_145207.3

p.L392fs

c.1174_1175fs

1 paper

NM_145207.3

p.L391insFs

c.1173dupA

4 papers

NM_145207.3

p.P387S

c.1159C>T

1 paper

NM_145207.3

p.K380R

c.1139A>G

1 paper

NM_145207.3

p.G357E

c.1070G>A