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

1 paper

NM_020297.4

p.W230*

c.689G>A

Surrounding Variants

1 paper

NM_020297.4

p.A226V

c.677C>T

1 paper

NM_020297.4

p.I235S

c.704T>G

1 paper

NM_020297.4

p.K225I

c.674A>T

1 paper

NM_020297.4

p.K225*

c.673A>T

1 paper

NM_020297.4

p.L223L

c.669G>T

1 paper

NM_020297.4

p.V220E

c.659T>A

1 paper

NM_020297.4

p.L245insFs

c.733_734ins4

1 paper

NM_020297.4

p.F215S

c.644T>C

1 paper

NM_020297.4

p.L245Q

c.734T>A

1 paper

NM_020297.4

p.I248T

c.743T>C

1 paper

NM_020297.4

p.L211R

c.632T>G

1 paper

NM_020297.4

p.P252A

c.754C>G