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

292 papers

NM_000392.5

p.V417I

c.1249G>A

Surrounding Variants

3 papers

NM_000392.5

p.V417F

c.1249G>T

2 papers

NM_000392.5

p.V417A

c.1250T>C

1 paper

NM_000392.5

p.Y415*

c.1245C>G

1 paper

NM_000392.5

p.E419*

c.1255G>T

3 papers

NM_000392.5

p.E419insFs

c.1256_1257insCT

1 paper

NM_000392.5

p.E419A

c.1256A>C

2 papers

NM_000392.5

p.E419_M424delins

c.1256_1272delinsCT

1 paper

NM_000392.5

p.Y415_T416del2

c.1243_1247del6

1 paper

NM_000392.5

p.E414Fs

c.1241delinsACFs

1 paper

NM_000392.5

p.E414fs

c.1240_1241fs

2 papers

NM_000392.5

p.K413K

c.1239G>A

1 paper

NM_000392.5

p.R412S

c.1236G>T