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.2339+865A>G

Surrounding Variants

1 paper

NM_020297.4

p.R780Splc

c.2339+773T>C

1 paper

NM_020297.4

p.R780Splc

c.2340-484C>T

1 paper

NM_020297.4

p.R780Splc

c.2340-233A>G

1 paper

NM_020297.4

p.R780Splc

c.2339+13A>G

1 paper

NM_020297.4

p.R780Splc

c.2339+3A>T

1 paper

NM_020297.4

p.Q779fs

c.2335_2336fs

1 paper

NM_020297.4

p.P775fs

c.2323_2324fs

1 paper

NM_020297.4

p.P775H

c.2324C>A

1 paper

NM_020297.4

p.N769S

c.2306A>G

1 paper

NM_020297.4

p.E768K

c.2302G>A

1 paper

NM_020297.4

p.Q757*

c.2269C>T

2 papers

NM_020297.4

p.Y754Y

c.2262T>C