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

10 papers

NM_020297.4

p.C1043Y

c.3128G>A

Surrounding Variants

1 paper

NM_020297.4

p.G1046R

c.3136G>C

1 paper

NM_020297.4

p.G1044_A1045del2

c.3130_3134del6

1 paper

NM_020297.4

p.F1039_G1046del8

c.3115_3137del24

1 paper

NM_020297.4

p.Y1035_G1046del12

c.3103_3137del36

5 papers

NM_020297.4

p.F1039S

c.3116T>C

1 paper

NM_020297.4

p.V1036_L1049del14

c.3106_3146del42

2 papers

NM_020297.4

p.C1050F

c.3149G>T

1 paper

NM_020297.4

p.Y1034H

c.3100T>C

2 papers

NM_020297.4

p.S1054F

c.3161C>T

8 papers

NM_020297.4

p.S1054Y

c.3161C>A

2 papers

NM_020297.4

p.L1055_E1058delins

c.3164_3173delinsC

1 paper

NM_020297.4

p.W1059L

c.3176G>T