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.E186G

c.557A>G

Surrounding Variants

1 paper

NM_000392.5

p.S185*

c.554C>G

1 paper

NM_000392.5

p.N188S

c.563A>G

1 paper

NM_000392.5

p.A183A

c.549A>T

1 paper

NM_000392.5

p.E189A

c.566A>C

1 paper

NM_000392.5

p.S190*

c.569C>A

1 paper

NM_000392.5

p.S190*

c.569C>G

1 paper

NM_000392.5

p.S190S

c.570A>T

1 paper

NM_000392.5

p.N192_N193Splc

c.576+1G>A

1 paper

NM_000392.5

p.L179P

c.536T>C

3 papers

NM_000392.5

p.L179_F181del0

c.537_542del6

1 paper

NM_000392.5

p.N192_N193Splc

c.576+4A>G

1 paper

NM_000392.5

p.I178V

c.532A>G