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.W1059L

c.3176G>T

Surrounding Variants

2 papers

NM_020297.4

p.W1059*

c.3176G>A

1 paper

NM_020297.4

p.W1059*

c.3177G>A

2 papers

NM_020297.4

p.L1055_E1058delins

c.3164_3173delinsC

2 papers

NM_020297.4

p.M1060I

c.3180G>T

2 papers

NM_020297.4

p.M1060I

c.3180G>C

2 papers

NM_020297.4

p.M1060I

c.3180G>A

2 papers

NM_020297.4

p.A1064P

c.3190G>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.L1068P

c.3203T>C

2 papers

NM_020297.4

p.C1050F

c.3149G>T

1 paper

NM_020297.4

p.V1036_L1049del14

c.3106_3146del42