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.R780Splc

c.2340-484C>T

Surrounding Variants

1 paper

NM_020297.4

p.R780Splc

c.2340-233A>G

1 paper

NM_020297.4

p.Y781D

c.2341T>G

1 paper

NM_020297.4

p.A783V

c.2348C>T

5 papers

NM_020297.4

p.D793V

c.2378A>T

1 paper

NM_020297.4

p.P798T

c.2392C>A

1 paper

NM_020297.4

p.R780Splc

c.2339+865A>G

1 paper

NM_020297.4

p.R808S

c.2424G>T

1 paper

NM_020297.4

p.R808S

c.2424G>C

1 paper

NM_020297.4

p.R808_G809Splc

c.2424+1G>T

1 paper

NM_020297.4

p.R808_G809Splc

c.2424+3G>A

1 paper

NM_020297.4

p.R808_G809Splc

c.2424+9T>C

1 paper

NM_020297.4

p.R780Splc

c.2339+773T>C