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.F472delFs

c.1416delA

Surrounding Variants

1 paper

NM_020297.4

p.F472fs

c.1414_1415fs

1 paper

NM_020297.4

p.P468L

c.1403C>T

28 papers

NM_020297.4

p.A478V

c.1433C>T

1 paper

NM_020297.4

p.A480S

c.1438G>T

1 paper

NM_020297.4

p.I463V

c.1387A>G

2 papers

NM_020297.4

p.V462A

c.1385T>C

1 paper

NM_020297.4

p.S483S

c.1449T>C

1 paper

NM_020297.4

p.A461P

c.1381G>C

1 paper

NM_020297.4

p.G459S

c.1375G>A

2 papers

NM_020297.4

p.A456T

c.1366G>A

2 papers

NM_020297.4

p.G453A

c.1358G>C

1 paper

NM_020297.4

p.L448I

c.1342C>A