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.I1284V

c.3850A>G

Surrounding Variants

2 papers

NM_080283.4

p.V1282I

c.3844G>A

1 paper

NM_080283.4

p.P1281P

c.3843C>T

1 paper

NM_080283.4

p.G1294C

c.3880G>T

1 paper

NM_080283.4

p.G1294G

c.3882C>A

1 paper

NM_080283.4

p.K1306I

c.3917A>T

5 papers

NM_080283.4

p.K1306T

c.3917A>C

1 paper

NM_080283.4

p.K1306insFs

c.3917_3918insC

1 paper

NM_080283.4

p.K1306fs

c.3916_3917fs

1 paper

NM_080283.4

p.E1320D

c.3960A>T

1 paper

NM_080283.4

p.E1320D

c.3960A>C

1 paper

NM_080283.4

p.P1345_T1346del1

c.4035_4037delGTT

1 paper

NM_080283.4

p.P1345_T1346del2

c.4033_4037del6