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.K921Q

c.2761A>C

Surrounding Variants

1 paper

NM_080283.4

p.K921N

c.2763G>T

1 paper

NM_080283.4

p.K921N

c.2763G>C

1 paper

NM_080283.4

p.I919I

c.2757C>T

1 paper

NM_080283.4

p.E886Q

c.2656G>C

1 paper

NM_080283.4

p.L883V

c.2647C>G

1 paper

NM_080283.4

p.Q878*

c.2632C>T

1 paper

NM_080283.4

p.G923Splc

c.2768-35C>A

1 paper

NM_080283.4

p.S924*

c.2771C>G

1 paper

NM_080283.4

p.S924*

c.2771C>A

1 paper

NM_080283.4

p.F929L

c.2785T>C

1 paper

NM_080283.4

p.F929L

c.2787T>G

1 paper

NM_080283.4

p.F929L

c.2787T>A