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

1–12 of 207 variants

5 papers

NM_080283.4

p.K1306T

c.3917A>C

5 papers

NM_080283.4

p.P1453T

c.4357C>A

4 papers

NM_080283.4

p.N785S

c.2354A>G

3 papers

NM_080283.4

p.S204*

c.611C>G

3 papers

NM_080283.4

p.S204*

c.611C>A

2 papers

NM_080283.4

p.I288T

c.863T>C

2 papers

NM_080283.4

p.R431*

c.1291C>T

2 papers

NM_080283.4

p.R1130H

c.3389G>A

2 papers

NM_080283.4

p.V1282I

c.3844G>A

2 papers

NM_080283.4

p.N1371S

c.4112A>G

2 papers

NM_080283.4

p.Y1386*

c.4158C>G

2 papers

NM_080283.4

p.Y1386*

c.4158C>A