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.I232fs

c.694_695fs

Surrounding Variants

1 paper

NM_080283.4

p.S233T

c.697T>A

1 paper

NM_080283.4

p.S233F

c.698C>T

1 paper

NM_080283.4

p.V241I

c.721G>A

1 paper

NM_080283.4

p.Q247*

c.739C>T

1 paper

NM_080283.4

p.K211*

c.631A>T

1 paper

NM_080283.4

p.T253M

c.758C>T

3 papers

NM_080283.4

p.S204*

c.611C>G

3 papers

NM_080283.4

p.S204*

c.611C>A

1 paper

NM_080283.4

p.R262*

c.784C>T

1 paper

NM_080283.4

p.A188S

c.562G>T

1 paper

NM_080283.4

p.A183G

c.548C>G

1 paper

NM_080283.4

p.S171L

c.512C>T