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.L179P

c.536T>C

Surrounding Variants

3 papers

NM_000392.5

p.L179_F181del0

c.537_542del6

1 paper

NM_000392.5

p.I178V

c.532A>G

1 paper

NM_000392.5

p.A183A

c.549A>T

22 papers

NM_000392.5

p.F174S

c.521T>C

1 paper

NM_000392.5

p.S185*

c.554C>G

1 paper

NM_000392.5

p.Y172Y

c.516C>T

1 paper

NM_000392.5

p.E186G

c.557A>G

1 paper

NM_000392.5

p.Y172fs

c.514_515fs

1 paper

NM_000392.5

p.S171C

c.512C>G

1 paper

NM_000392.5

p.S171F

c.512C>T

1 paper

NM_000392.5

p.S171delFs

c.513delC

1 paper

NM_000392.5

p.N188S

c.563A>G