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.G143D

c.428G>A

Surrounding Variants

1 paper

NM_000392.5

p.C142S

c.424T>A

15 papers

NM_000392.5

p.L141I

c.421C>A

2 papers

NM_000392.5

p.L141F

c.421C>T

1 paper

NM_000392.5

p.I140K

c.419T>A

1 paper

NM_000392.5

p.S139L

c.416C>T

1 paper

NM_000392.5

p.S139fs

c.415_416fs

1 paper

NM_000392.5

p.L138V

c.412C>G

1 paper

NM_000392.5

p.S139delFs

c.415_416delTC

1 paper

NM_000392.5

p.R152Q

c.455G>A

1 paper

NM_000392.5

p.L134P

c.401T>C

1 paper

NM_000392.5

p.S133S

c.399C>T

7 papers

NM_000392.5

p.T153I

c.458C>T