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.L407_S408insFs

c.1221_1222insC

Surrounding Variants

1 paper

NM_000392.5

p.L407P

c.1220T>C

3 papers

NM_000392.5

p.L407L

c.1219C>T

1 paper

NM_000392.5

p.S408F

c.1223C>T

11 papers

NM_000392.5

p.R412G

c.1234A>G

1 paper

NM_000392.5

p.R412S

c.1236G>T

2 papers

NM_000392.5

p.K413K

c.1239G>A

1 paper

NM_000392.5

p.E414fs

c.1240_1241fs

1 paper

NM_000392.5

p.E414Fs

c.1241delinsACFs

1 paper

NM_000392.5

p.Y415_T416del2

c.1243_1247del6

1 paper

NM_000392.5

p.Y415*

c.1245C>G

292 papers

NM_000392.5

p.V417I

c.1249G>A

3 papers

NM_000392.5

p.V417F

c.1249G>T