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.Q767Q

c.2301G>A

Surrounding Variants

73 papers

NM_000392.5

p.R768W

c.2302C>T

1 paper

NM_000392.5

p.R768Q

c.2303G>A

1 paper

NM_000392.5

p.K766Q

c.2296A>C

1 paper

NM_000392.5

p.K766E

c.2296A>G

2 papers

NM_000392.5

p.I769T

c.2306T>C

1 paper

NM_000392.5

p.G764V

c.2291G>T

1 paper

NM_000392.5

p.G764delFs

c.2291delG

2 papers

NM_000392.5

p.R773S

c.2319A>C

2 papers

NM_000392.5

p.R773S

c.2319A>T

3 papers

NM_000392.5

p.T775delFs

c.2325delC

1 paper

NM_000392.5

p.T775I

c.2324C>T

2 papers

NM_000392.5

p.Y776fs

c.2326_2327fs