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

24 papers

NM_000392.5

p.R393W

c.1177C>T

Surrounding Variants

1 paper

NM_000392.5

p.R393Q

c.1178G>A

2 papers

NM_000392.5

p.T394R

c.1181C>G

1 paper

NM_000392.5

p.A395D

c.1184C>A

1 paper

NM_000392.5

p.G389D

c.1166G>A

1 paper

NM_000392.5

p.F386L

c.1158C>G

1 paper

NM_000392.5

p.K402T

c.1205A>C

1 paper

NM_000392.5

p.Q383K

c.1147C>A

1 paper

NM_000392.5

p.F382L

c.1146C>G

1 paper

NM_000392.5

p.Y381C

c.1142A>G

1 paper

NM_000392.5

p.K403_A404Splc

c.1209+6C>A

4 papers

NM_000392.5

p.Q379K

c.1135C>A

1 paper

NM_000392.5

p.Q379*

c.1135C>T