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.Y749*

c.2247T>G

Surrounding Variants

1 paper

NM_080283.4

p.Y749*

c.2247T>A

1 paper

NM_080283.4

p.K731R

c.2192A>G

1 paper

NM_080283.4

p.L729fs

c.2185_2186fs

1 paper

NM_080283.4

p.E724Q

c.2170G>C

1 paper

NM_080283.4

p.D722N

c.2164G>A

1 paper

NM_080283.4

p.R720S

c.2160G>T

1 paper

NM_080283.4

p.R720S

c.2160G>C

1 paper

NM_080283.4

p.K706T

c.2117A>C

1 paper

NM_080283.4

p.S770C

c.2309C>G

1 paper

NM_080283.4

p.N785I

c.2354A>T

4 papers

NM_080283.4

p.N785S

c.2354A>G

1 paper

NM_080283.4

p.F788L

c.2362T>C