Varaico: Literature-Extracted Genetic Variants

ABCC2

1,239 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

TMD0_ABCaa 3–165UCSCABC transporter TMD0 domain

ABC_membraneaa 322–593UCSCABC transporter transmembrane region

ABC_tranaa 654–789UCSCABC transporter

ABC_membraneaa 979–1251UCSCABC transporter transmembrane region

ABC_tranaa 1317–1465UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 2

HGNC Previous Symbol

CMOAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000392.5

p.A1535P

c.4603G>C

Surrounding Variants

1 paper

NM_000392.5

p.F1528L

c.4584T>A

1 paper

NM_000392.5

p.F1528L

c.4584T>G

1 paper

NM_000392.5

p.F1528L

c.4582T>C

1 paper

NM_000392.5

p.T1543A

c.4627A>G

2 papers

NM_000392.5

p.Q1523P

c.4568A>C

96 papers

NM_000392.5

p.C1515Y

c.4544G>A

1 paper

NM_000392.5

p.E1514G

c.4541A>G

1 paper

NM_000392.5

p.I1512delFs

c.4536delT

1 paper

NM_000392.5

p.I1512fs

c.4534_4535fs

1 paper

NM_000392.5

p.K1511insFs

c.4532dupA

1 paper

NM_000392.5

p.G1510A

c.4529G>C

1 paper

NM_000392.5

p.G1510R

c.4528G>A