Varaico: Literature-Extracted Genetic Variants

ABCC9

495 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membraneaa 297–585UCSCABC transporter transmembrane region

ABC_tranaa 688–840UCSCABC transporter

ABC_membraneaa 994–1266UCSCABC transporter transmembrane region

ABC_tranaa 1329–1477UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 9

HGNC Alias Symbols

SUR2; CMD1O

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020297.4

p.R191_R192Splc

c.574-5C>A

Surrounding Variants

1 paper

NM_020297.4

p.F196L

c.586T>C

1 paper

NM_020297.4

p.F196L

c.588C>G

1 paper

NM_020297.4

p.F196L

c.588C>A

1 paper

NM_020297.4

p.P204L

c.611C>T

1 paper

NM_020297.4

p.P204delFs

c.610delG

1 paper

NM_020297.4

p.D207A

c.620A>C

9 papers

NM_020297.4

p.D207E

c.621C>G

9 papers

NM_020297.4

p.D207E

c.621C>A

1 paper

NM_020297.4

p.L211R

c.632T>G

1 paper

NM_020297.4

p.F215S

c.644T>C

1 paper

NM_020297.4

p.V220E

c.659T>A

1 paper

NM_020297.4

p.L223L

c.669G>T