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.D354G

c.1061A>G

Surrounding Variants

1 paper

NM_000392.5

p.T355del1

c.1063_1064delACA

1 paper

NM_000392.5

p.D354N

c.1060G>A

13 papers

NM_000392.5

p.R353H

c.1058G>A

1 paper

NM_000392.5

p.R353C

c.1057C>T

1 paper

NM_000392.5

p.Y356C

c.1067A>G

1 paper

NM_000392.5

p.W358S

c.1073G>C

3 papers

NM_000392.5

p.I359L

c.1075A>C

1 paper

NM_000392.5

p.I347V

c.1039A>G

1 paper

NM_000392.5

p.A364V

c.1091C>T

1 paper

NM_000392.5

p.L367*

c.1100T>A

1 paper

NM_000392.5

p.L367*

c.1100T>G

1 paper

NM_000392.5

p.F368Y

c.1103T>A