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

49 papers

NM_000392.5

p.E893*

c.2677G>T

Surrounding Variants

9 papers

NM_000392.5

p.E893K

c.2677G>A

5 papers

NM_000392.5

p.E893Q

c.2677G>C

1 paper

NM_000392.5

p.E892Q

c.2674G>C

1 paper

NM_000392.5

p.E892*

c.2674G>T

1 paper

NM_000392.5

p.P895S

c.2683C>T

3 papers

NM_000392.5

p.E896K

c.2686G>A

1 paper

NM_000392.5

p.E896_D897insFs

c.2687_2690dup4

3 papers

NM_000392.5

p.D883N

c.2647G>A

1 paper

NM_000392.5

p.R905K

c.2714G>A

1 paper

NM_000392.5

p.R905I

c.2714G>T

1 paper

NM_000392.5

p.E881del1

c.2641_2642delGAA

1 paper

NM_000392.5

p.H875R

c.2624A>G