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.Y1386*

c.4158C>G

Surrounding Variants

2 papers

NM_080283.4

p.Y1386*

c.4158C>A

1 paper

NM_080283.4

p.A1387T

c.4159G>A

1 paper

NM_080283.4

p.V1385M

c.4153G>A

1 paper

NM_080283.4

p.V1389M

c.4165G>A

1 paper

NM_080283.4

p.A1397T

c.4189G>A

1 paper

NM_080283.4

p.I1399I

c.4197C>T

1 paper

NM_080283.4

p.A1372V

c.4115C>T

2 papers

NM_080283.4

p.N1371S

c.4112A>G

1 paper

NM_080283.4

p.G1356S

c.4066G>A

1 paper

NM_080283.4

p.S1355T

c.4064G>C

1 paper

NM_080283.4

p.R1403Q

c.4208G>A

1 paper

NM_080283.4

p.A1407A

c.4221G>T