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

2 papers

NM_000392.5

p.A465V

c.1394C>T

Surrounding Variants

1 paper

NM_000392.5

p.A465T

c.1393G>A

1 paper

NM_000392.5

p.L464S

c.1391T>C

1 paper

NM_000392.5

p.V467I

c.1399G>A

1 paper

NM_000392.5

p.G468delFs

c.1404delG

1 paper

NM_000392.5

p.V469L

c.1405G>C

1 paper

NM_000392.5

p.V469L

c.1405G>T

1 paper

NM_000392.5

p.P461insFs

c.1382_1383ins29

1 paper

NM_000392.5

p.L459F

c.1377G>C

1 paper

NM_000392.5

p.L459F

c.1377G>T

2 papers

NM_000392.5

p.P475P

c.1425A>G

1 paper

NM_000392.5

p.F453I

c.1357T>A

1 paper

NM_000392.5

p.A478_T482del5

c.1432_1445del15