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

3 papers

NM_020297.4

p.N1074S

c.3221A>G

Surrounding Variants

1 paper

NM_020297.4

p.L1073V

c.3217C>G

1 paper

NM_020297.4

p.N1071D

c.3211A>G

1 paper

NM_020297.4

p.G1079*

c.3235G>T

1 paper

NM_020297.4

p.H1069P

c.3206A>C

1 paper

NM_020297.4

p.H1069Y

c.3205C>T

1 paper

NM_020297.4

p.P1080T

c.3238C>A

2 papers

NM_020297.4

p.L1068P

c.3203T>C

1 paper

NM_020297.4

p.P1080Q

c.3239C>A

3 papers

NM_020297.4

p.I1081M

c.3243A>G

1 paper

NM_020297.4

p.R1082K

c.3245G>A

1 paper

NM_020297.4

p.R1082Splc

c.3245+1G>A

1 paper

NM_020297.4

p.R1082Splc

c.3245+2T>A