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.Q118fs

c.352_353fs

Surrounding Variants

1 paper

NM_000392.5

p.I117I

c.351C>A

1 paper

NM_000392.5

p.I117I

c.351C>T

1 paper

NM_000392.5

p.Q118Q

c.354A>G

2 papers

NM_000392.5

p.I117_Y119insFs

c.351_355dup5

1 paper

NM_000392.5

p.L115F

c.345G>T

1 paper

NM_000392.5

p.S120R

c.360C>G

1 paper

NM_000392.5

p.L115S

c.344T>C

1 paper

NM_000392.5

p.L115W

c.344T>G

1 paper

NM_000392.5

p.Q122*

c.364C>T

1 paper

NM_000392.5

p.V114L

c.340G>C

1 paper

NM_000392.5

p.Q122R

c.365A>G

1 paper

NM_000392.5

p.L113L

c.339G>T