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.D1314H

c.3940G>C

Surrounding Variants

1 paper

NM_000392.5

p.R1310Q

c.3929G>A

2 papers

NM_000392.5

p.R1310G

c.3928C>G

19 papers

NM_000392.5

p.R1310*

c.3928C>T

6 papers

NM_000392.5

p.Y1309Y

c.3927C>T

1 paper

NM_000392.5

p.R1308Q

c.3923G>A

1 paper

NM_000392.5

p.R1308L

c.3923G>T

1 paper

NM_000392.5

p.T1321A

c.3961A>G

1 paper

NM_000392.5

p.V1307M

c.3919G>A

2 papers

NM_000392.5

p.V1307_Y1309insFs

c.3921_3925dup5

1 paper

NM_000392.5

p.C1322Y

c.3965G>A

1 paper

NM_000392.5

p.C1322*

c.3966T>A

1 paper

NM_000392.5

p.N1303K

c.3909C>A