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

1–12 of 119 variants

16 papers

NM_145207.3

p.T330del1

c.988_989delACA

11 papers

NM_145207.3

p.R84Q

c.251G>A

9 papers

NM_145207.3

p.G572Splc

c.1714+1G>A

7 papers

NM_145207.3

p.D628G

c.1883A>G

6 papers

NM_145207.3

p.G185E

c.554G>A

6 papers

NM_145207.3

p.R186*

c.556C>T

5 papers

NM_145207.3

p.S448L

c.1343C>T

5 papers

NM_145207.3

p.R529Q

c.1586G>A

5 papers

NM_145207.3

p.Y559*

c.1677C>A

5 papers

NM_145207.3

p.Y559*

c.1677C>G

5 papers

NM_145207.3

p.W626C

c.1878G>C

5 papers

NM_145207.3

p.W626C

c.1878G>T