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

3 papers

NM_000392.5

p.E854delFs

c.2561_2562delAG

Surrounding Variants

3 papers

NM_000392.5

p.E854fs

c.2560_2561fs

1 paper

NM_000392.5

p.K852delFs

c.2556delA

12 papers

NM_000392.5

p.L849R

c.2546T>G

1 paper

NM_000392.5

p.G843delFs

c.2528delG

1 paper

NM_000392.5

p.E841D

c.2523G>C

1 paper

NM_000392.5

p.E841D

c.2523G>T

1 paper

NM_000392.5

p.G867S

c.2599G>A

1 paper

NM_000392.5

p.G867_P868insFs

c.2601_2602insTA

1 paper

NM_000392.5

p.G837*

c.2509G>T

1 paper

NM_000392.5

p.E871E

c.2613A>G

1 paper

NM_000392.5

p.L834P

c.2501T>C

1 paper

NM_000392.5

p.T873P

c.2617A>C