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

2 papers

NM_080283.4

p.I288T

c.863T>C

Surrounding Variants

1 paper

NM_080283.4

p.I288S

c.863T>G

1 paper

NM_080283.4

p.I288N

c.863T>A

1 paper

NM_080283.4

p.A286V

c.857C>T

1 paper

NM_080283.4

p.A286T

c.856G>A

1 paper

NM_080283.4

p.G299D

c.896G>A

1 paper

NM_080283.4

p.V303I

c.907G>A

1 paper

NM_080283.4

p.T305S

c.913A>T

1 paper

NM_080283.4

p.T305S

c.914C>G

1 paper

NM_080283.4

p.W267C

c.801G>C

1 paper

NM_080283.4

p.L309I

c.925C>A

1 paper

NM_080283.4

p.Y310H

c.928T>C

1 paper

NM_080283.4

p.L314_I315Splc

c.942+2T>C