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.I248T

c.743T>C

Surrounding Variants

1 paper

NM_020297.4

p.L245Q

c.734T>A

1 paper

NM_020297.4

p.L245insFs

c.733_734ins4

1 paper

NM_020297.4

p.P252A

c.754C>G

1 paper

NM_020297.4

p.P252L

c.755C>T

1 paper

NM_020297.4

p.T259K

c.776C>A

1 paper

NM_020297.4

p.I235S

c.704T>G

1 paper

NM_020297.4

p.V262G

c.785T>G

2 papers

NM_020297.4

p.C263C

c.789C>T

1 paper

NM_020297.4

p.L264fs

c.790_791fs

1 paper

NM_020297.4

p.W230*

c.689G>A

1 paper

NM_020297.4

p.D266D

c.798T>C

1 paper

NM_020297.4

p.A226V

c.677C>T