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.C124G

c.370T>G

Surrounding Variants

1 paper

NM_000392.5

p.C124W

c.372T>G

1 paper

NM_000392.5

p.Q122R

c.365A>G

13 papers

NM_000392.5

p.Q126*

c.376C>T

1 paper

NM_000392.5

p.Q122*

c.364C>T

1 paper

NM_000392.5

p.K127R

c.380A>G

1 paper

NM_000392.5

p.S120R

c.360C>G

3 papers

NM_000392.5

p.K127K

c.381A>G

1 paper

NM_000392.5

p.N128Y

c.382A>T

1 paper

NM_000392.5

p.N128K

c.384C>G

1 paper

NM_000392.5

p.Q118Q

c.354A>G

1 paper

NM_000392.5

p.S129S

c.387C>T

1 paper

NM_000392.5

p.Q118fs

c.352_353fs