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.L113P

c.338T>C

Surrounding Variants

1 paper

NM_000392.5

p.L113Q

c.338T>A

1 paper

NM_000392.5

p.L113L

c.339G>T

1 paper

NM_000392.5

p.L112_L113insFs

c.336_337insT

1 paper

NM_000392.5

p.V114L

c.340G>C

3 papers

NM_000392.5

p.L112fs

c.334_335fs

1 paper

NM_000392.5

p.W111_L112Splc

c.334-1G>T

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.L115F

c.345G>T

2 papers

NM_000392.5

p.I117_Y119insFs

c.351_355dup5

1 paper

NM_000392.5

p.I117I

c.351C>A

1 paper

NM_000392.5

p.I117I

c.351C>T