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

4 papers

NM_000392.5

p.Q379K

c.1135C>A

Surrounding Variants

1 paper

NM_000392.5

p.Q379*

c.1135C>T

1 paper

NM_000392.5

p.L378F

c.1132C>T

1 paper

NM_000392.5

p.Y381C

c.1142A>G

1 paper

NM_000392.5

p.S375Y

c.1124C>A

1 paper

NM_000392.5

p.F382L

c.1146C>G

1 paper

NM_000392.5

p.Q383K

c.1147C>A

1 paper

NM_000392.5

p.I373F

c.1117A>T

1 paper

NM_000392.5

p.F386L

c.1158C>G

1 paper

NM_000392.5

p.A370T

c.1108G>A

1 paper

NM_000392.5

p.G389D

c.1166G>A

1 paper

NM_000392.5

p.F368Y

c.1103T>A

1 paper

NM_000392.5

p.L367*

c.1100T>A