Varaico: Literature-Extracted Genetic Variants

ABCA9

141 papers

RefSeq Summary

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport ...

Pfam Domains

ABC2_membrane_3aa 27–419UCSCABC-2 family transporter protein

ABC_tranaa 500–646UCSCABC transporter

ACT_13aa 711–784UCSCACT-like domain

ABC2_membrane_3aa 922–1220UCSCABC-2 family transporter protein

ABC_tranaa 1309–1449UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 9

HGNC Alias Symbol

EST640918

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_080283.4

p.M149L

c.445A>T

Surrounding Variants

1 paper

NM_080283.4

p.D154Y

c.460G>T

1 paper

NM_080283.4

p.G143E

c.428G>A

1 paper

NM_080283.4

p.G143R

c.427G>C

1 paper

NM_080283.4

p.G143R

c.427G>A

1 paper

NM_080283.4

p.S141S

c.423T>C

1 paper

NM_080283.4

p.A157S

c.469G>T

1 paper

NM_080283.4

p.A125T

c.373G>A

1 paper

NM_080283.4

p.D124E

c.372C>G

1 paper

NM_080283.4

p.D124E

c.372C>A

1 paper

NM_080283.4

p.L117F

c.351G>T

1 paper

NM_080283.4

p.L117F

c.351G>C

1 paper

NM_080283.4

p.G107G

c.321G>A