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

36 papers

NM_000392.5

p.S789F

c.2366C>T

Surrounding Variants

1 paper

NM_000392.5

p.S789C

c.2366C>G

2 papers

NM_000392.5

p.L788fs

c.2362_2363fs

3 papers

NM_000392.5

p.L788fs

c.2362_2363fs

8 papers

NM_000392.5

p.L788delFs

c.2362_2363delCT

1 paper

NM_000392.5

p.L788del1

c.2362_2363delCTG

1 paper

NM_000392.5

p.P787S

c.2359C>T

1 paper

NM_000392.5

p.P787fs

c.2359_2360fs

3 papers

NM_000392.5

p.P787_S789delFs

c.2360_2366del7

1 paper

NM_000392.5

p.D786delFs

c.2358delC

1 paper

NM_000392.5

p.H794Y

c.2380C>T

1 paper

NM_000392.5

p.L784P

c.2351T>C

2 papers

NM_000392.5

p.K797delFs

c.2391delA