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.F453I

c.1357T>A

Surrounding Variants

1 paper

NM_000392.5

p.I452fs

c.1354_1355fs

1 paper

NM_000392.5

p.S451Y

c.1352C>A

2 papers

NM_000392.5

p.I452_F453delFs

c.1354_1357del4

3 papers

NM_000392.5

p.I448V

c.1342A>G

1 paper

NM_000392.5

p.L459F

c.1377G>C

1 paper

NM_000392.5

p.L459F

c.1377G>T

1 paper

NM_000392.5

p.L446L

c.1336C>T

1 paper

NM_000392.5

p.P461insFs

c.1382_1383ins29

1 paper

NM_000392.5

p.S444R

c.1332T>A

1 paper

NM_000392.5

p.S444R

c.1332T>G

1 paper

NM_000392.5

p.S444R

c.1330A>C

2 papers

NM_000392.5

p.S443L

c.1328C>T