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.R529Q

c.1586G>A

Surrounding Variants

1 paper

NM_145207.3

p.A526delFs

c.1578delT

3 papers

NM_145207.3

p.N525fs

c.1573_1574fs

2 papers

NM_145207.3

p.N525_A526delFs

c.1574_1578del5

1 paper

NM_145207.3

p.R539delFs

c.1616delG

1 paper

NM_145207.3

p.R539M

c.1616G>T

1 paper

NM_145207.3

p.V540fs

c.1618_1619fs

1 paper

NM_145207.3

p.D516H

c.1546G>C

1 paper

NM_145207.3

p.L544R

c.1631T>G

2 papers

NM_145207.3

p.R510*

c.1528C>T

5 papers

NM_145207.3

p.Y559*

c.1677C>A

5 papers

NM_145207.3

p.Y559*

c.1677C>G

1 paper

NM_145207.3

p.V493delFs

c.1477delG