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.M1127I

c.3381G>C

Surrounding Variants

1 paper

NM_020297.4

p.M1127I

c.3381G>T

1 paper

NM_020297.4

p.M1127I

c.3381G>A

1 paper

NM_020297.4

p.L1119P

c.3356T>C

1 paper

NM_020297.4

p.V1137L

c.3409G>C

7 papers

NM_020297.4

p.V1137I

c.3409G>A

18 papers

NM_020297.4

p.R1116H

c.3347G>A

8 papers

NM_020297.4

p.R1116C

c.3346C>T

2 papers

NM_020297.4

p.R1116G

c.3346C>G

1 paper

NM_020297.4

p.P1141S

c.3421C>T

1 paper

NM_020297.4

p.G1143S

c.3427G>A

1 paper

NM_020297.4

p.G1143D

c.3428G>A

2 papers

NM_020297.4

p.P1108S

c.3322C>T