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.A1513fs

c.4537_4538fs

Surrounding Variants

1 paper

NM_020297.4

p.A1513delFs

c.4539delT

20 papers

NM_020297.4

p.A1513T

c.4537G>A

2 papers

NM_020297.4

p.T1512M

c.4535C>T

1 paper

NM_020297.4

p.L1515V

c.4543C>G

1 paper

NM_020297.4

p.L1515P

c.4544T>C

1 paper

NM_020297.4

p.R1506_T1509delFs

c.4517_4527del11

1 paper

NM_020297.4

p.R1506_T1509delFs

c.4517_4526del10

1 paper

NM_020297.4

p.T1509I

c.4526C>T

1 paper

NM_020297.4

p.V1507I

c.4519G>A

2 papers

NM_020297.4

p.R1506fs

c.4516_4517fs

1 paper

NM_020297.4

p.R1506Q

c.4517G>A

1 paper

NM_020297.4

p.R1521Q

c.4562G>A