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.S1116P

c.3346T>C

Surrounding Variants

2 papers

NM_080283.4

p.R1130H

c.3389G>A

1 paper

NM_080283.4

p.Q1107_I1108Splc

c.3321+59T>C

1 paper

NM_080283.4

p.Q1086R

c.3257A>G

1 paper

NM_080283.4

p.I1081F

c.3241A>T

1 paper

NM_080283.4

p.K1050R

c.3149A>G

1 paper

NM_080283.4

p.P1031L

c.3092C>T

1 paper

NM_080283.4

p.F1011S

c.3032T>C

1 paper

NM_080283.4

p.F998L

c.2994T>G

1 paper

NM_080283.4

p.F998L

c.2994T>A

1 paper

NM_080283.4

p.F998L

c.2992T>C

1 paper

NM_080283.4

p.I997V

c.2989A>G

1 paper

NM_080283.4

p.R979W

c.2935C>T