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.L1065F

c.3193C>T

Surrounding Variants

1 paper

NM_000392.5

p.I1064I

c.3192C>T

1 paper

NM_000392.5

p.R1066G

c.3196C>G

30 papers

NM_000392.5

p.R1066*

c.3196C>T

1 paper

NM_000392.5

p.R1066Q

c.3197G>A

1 paper

NM_000392.5

p.N1063S

c.3188A>G

1 paper

NM_000392.5

p.N1063D

c.3187A>G

1 paper

NM_000392.5

p.F1072insFs

c.3216dupT

1 paper

NM_000392.5

p.T1075K

c.3224C>A

1 paper

NM_000392.5

p.A1052G

c.3155C>G

1 paper

NM_000392.5

p.R1079W

c.3235C>T

2 papers

NM_000392.5

p.R1079Q

c.3236G>A

1 paper

NM_000392.5

p.G1048R

c.3142G>C