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.D427E

c.1281T>G

Surrounding Variants

1 paper

NM_000392.5

p.D427E

c.1281T>A

1 paper

NM_000392.5

p.K430del1

c.1288_1290delAAG

1 paper

NM_000392.5

p.S425Y

c.1274C>A

1 paper

NM_000392.5

p.S425F

c.1274C>T

1 paper

NM_000392.5

p.K430R

c.1289A>G

7 papers

NM_000392.5

p.S425T

c.1273T>A

1 paper

NM_000392.5

p.K430K

c.1290G>A

2 papers

NM_000392.5

p.L431delFs

c.1291delC

2 papers

NM_000392.5

p.M432V

c.1294A>G

1 paper

NM_000392.5

p.M432K

c.1295T>A

8 papers

NM_000392.5

p.D433A

c.1298A>C

1 paper

NM_000392.5

p.D433V

c.1298A>T