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.E593G

c.1778A>G

Surrounding Variants

1 paper

NM_080283.4

p.K596K

c.1788A>G

1 paper

NM_080283.4

p.L582L

c.1744C>T

1 paper

NM_080283.4

p.I557M

c.1671C>G

1 paper

NM_080283.4

p.V601I

c.1801G>A

1 paper

NM_080283.4

p.G620S

c.1858G>A

1 paper

NM_080283.4

p.A631T

c.1891G>A

1 paper

NM_080283.4

p.R655P

c.1964G>C

1 paper

NM_080283.4

p.F671F

c.2013C>T

1 paper

NM_080283.4

p.D677H

c.2029G>C

1 paper

NM_080283.4

p.L530P

c.1589T>C

1 paper

NM_080283.4

p.G502D

c.1505G>A

1 paper

NM_080283.4

p.K706T

c.2117A>C