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.N456K

c.1368T>A

Surrounding Variants

1 paper

NM_080283.4

p.N456K

c.1368T>G

1 paper

NM_080283.4

p.N456I

c.1367A>T

1 paper

NM_080283.4

p.N456D

c.1366A>G

1 paper

NM_080283.4

p.L454P

c.1361T>C

1 paper

NM_080283.4

p.L454H

c.1361T>A

1 paper

NM_080283.4

p.T463S

c.1387A>T

1 paper

NM_080283.4

p.A449delFs

c.1345_1346delGC

1 paper

NM_080283.4

p.D466V

c.1397A>T

1 paper

NM_080283.4

p.L438Q

c.1313T>A

1 paper

NM_080283.4

p.G477W

c.1429G>T

1 paper

NM_080283.4

p.K478K

c.1434A>G

2 papers

NM_080283.4

p.R431*

c.1291C>T