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.F1544S

c.4631T>C

Surrounding Variants

1 paper

NM_020297.4

p.R1546C

c.4636C>T

1 paper

NM_020297.4

p.R1546L

c.4637G>T

5 papers

NM_020297.4

p.A1547V

c.4640C>T

3 papers

NM_020297.4

p.N1538S

c.4613A>G

1 paper

NM_020297.4

p.N1538D

c.4612A>G

1 paper

NM_020297.4

p.A1535D

c.4604C>A

3 papers

NM_020297.4

p.A1535T

c.4603G>A

2 papers

NM_020297.4

p.L1525insFs

c.4573_4574insT

1 paper

NM_020297.4

p.I1524delFs

c.4571delA

1 paper

NM_020297.4

p.I1524delFs

c.4571_4572delAA

1 paper

NM_020297.4

p.I1524Fs

c.4570_4572delinsAAFs

6 papers

NM_020297.4

p.I1524Fs

c.4570_4572delinsAAATFs