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

1–12 of 987 variants

292 papers

NM_000392.5

p.V417I

c.1249G>A

202 papers

NM_000392.5

p.I1324I

c.3972C>T

96 papers

NM_000392.5

p.C1515Y

c.4544G>A

79 papers

NM_000392.5

p.V1188E

c.3563T>A

73 papers

NM_000392.5

p.R768W

c.2302C>T

56 papers

NM_000392.5

p.S1145S

c.3435C>T

49 papers

NM_000392.5

p.E893*

c.2677G>T

36 papers

NM_000392.5

p.S789F

c.2366C>T

30 papers

NM_000392.5

p.R1066*

c.3196C>T

25 papers

NM_000392.5

p.I1173F

c.3517A>T

24 papers

NM_000392.5

p.R393W

c.1177C>T

24 papers

NM_000392.5

p.R1150H

c.3449G>A