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

9 papers

NM_020297.4

p.H60Y

c.178C>T

Surrounding Variants

1 paper

NM_020297.4

p.N61K

c.183C>G

1 paper

NM_020297.4

p.N61K

c.183C>A

1 paper

NM_020297.4

p.I58F

c.172A>T

1 paper

NM_020297.4

p.Q57H

c.171A>T

2 papers

NM_020297.4

p.Q57*

c.169C>T

1 paper

NM_020297.4

p.V56E

c.167T>A

1 paper

NM_020297.4

p.S53fs

c.157_158fs

1 paper

NM_020297.4

p.S53delFs

c.158delC

2 papers

NM_020297.4

p.P67L

c.200C>T

1 paper

NM_020297.4

p.P67P

c.201G>A

6 papers

NM_020297.4

p.Q52R

c.155A>G

1 paper

NM_020297.4

p.I74_L75insFs

c.222_223insA