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

1–12 of 638 variants

30 papers

NM_020297.4

p.R1154W

c.3460C>T

28 papers

NM_020297.4

p.A478V

c.1433C>T

28 papers

NM_020297.4

p.R1154Q

c.3461G>A

26 papers

NM_020297.4

p.V734I

c.2200G>A

20 papers

NM_020297.4

p.A1513T

c.4537G>A

18 papers

NM_020297.4

p.R1116H

c.3347G>A

10 papers

NM_020297.4

p.C1043Y

c.3128G>A

9 papers

NM_020297.4

p.H60Y

c.178C>T

9 papers

NM_020297.4

p.D207E

c.621C>G

9 papers

NM_020297.4

p.D207E

c.621C>A

9 papers

NM_020297.4

p.S1020P

c.3058T>C

9 papers

NM_020297.4

p.T1202M

c.3605C>T