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.S1020A

c.3058T>G

Surrounding Variants

9 papers

NM_020297.4

p.S1020P

c.3058T>C

1 paper

NM_020297.4

p.S1020L

c.3059C>T

2 papers

NM_020297.4

p.T1019I

c.3056C>T

2 papers

NM_020297.4

p.T1019K

c.3056C>A

1 paper

NM_020297.4

p.T1019delins

c.3055_3056delinsGA

1 paper

NM_020297.4

p.E1021K

c.3061G>A

1 paper

NM_020297.4

p.W1018G

c.3052T>G

1 paper

NM_020297.4

p.A1016D

c.3047C>A

2 papers

NM_020297.4

p.I1024V

c.3070A>G

1 paper

NM_020297.4

p.W1014*

c.3042G>A

1 paper

NM_020297.4

p.W1014*

c.3041G>A

2 papers

NM_020297.4

p.W1014R

c.3040T>C