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

5 papers

NM_080283.4

p.P1453T

c.4357C>A

Surrounding Variants

1 paper

NM_080283.4

p.Q1456K

c.4366C>A

1 paper

NM_080283.4

p.P1447L

c.4340C>T

1 paper

NM_080283.4

p.S1434I

c.4301G>T

1 paper

NM_080283.4

p.V1418M

c.4252G>A

1 paper

NM_080283.4

p.P1417S

c.4249C>T

1 paper

NM_080283.4

p.K1415M

c.4244A>T

1 paper

NM_080283.4

p.A1407A

c.4221G>T

1 paper

NM_080283.4

p.R1403Q

c.4208G>A

2 papers

NM_080283.4

p.R1464W

c.4390C>T

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