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

2 papers

NM_080283.4

p.R1464W

c.4390C>T

Surrounding Variants

1 paper

NM_080283.4

p.T1470M

c.4409C>T

1 paper

NM_080283.4

p.T1477A

c.4429A>G

1 paper

NM_080283.4

p.T1477fs

c.4429_4430fs

1 paper

NM_080283.4

p.E1483K

c.4447G>A

1 paper

NM_080283.4

p.A1486V

c.4457C>T

1 paper

NM_080283.4

p.K1511T

c.4532A>C

1 paper

NM_080283.4

p.E1519V

c.4556A>T

1 paper

NM_080283.4

p.K1521E

c.4561A>G

1 paper

NM_080283.4

p.A1526V

c.4577C>T

1 paper

NM_080283.4

p.R1537M

c.4610G>T

1 paper

NM_080283.4

p.Q1456K

c.4366C>A

5 papers

NM_080283.4

p.P1453T

c.4357C>A