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

7 papers

NM_145207.3

p.D628G

c.1883A>G

Surrounding Variants

5 papers

NM_145207.3

p.W626C

c.1878G>C

5 papers

NM_145207.3

p.W626C

c.1878G>T

1 paper

NM_145207.3

p.G630E

c.1889G>A

2 papers

NM_145207.3

p.W626S

c.1877G>C

1 paper

NM_145207.3

p.E640Q

c.1918G>C

3 papers

NM_145207.3

p.K648E

c.1942A>G

1 paper

NM_145207.3

p.E651G

c.1952A>G

1 paper

NM_145207.3

p.S652F

c.1955C>T

1 paper

NM_145207.3

p.R655Q

c.1964G>A

1 paper

NM_145207.3

p.G657D

c.1970G>A

1 paper

NM_145207.3

p.G668delFs

c.2002delG

NM_001317799.2

p.G667delFs

c.1999delG

1 paper

NM_001317799.2

p.G667fs

c.1999_2000fs

NM_145207.3

p.G668fs

c.2002_2003fs