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.L834P

c.2501T>C

Surrounding Variants

1 paper

NM_000392.5

p.G837*

c.2509G>T

1 paper

NM_000392.5

p.I831T

c.2492T>C

1 paper

NM_000392.5

p.D829delFs

c.2485delG

1 paper

NM_000392.5

p.E841D

c.2523G>C

1 paper

NM_000392.5

p.E841D

c.2523G>T

1 paper

NM_000392.5

p.G843delFs

c.2528delG

1 paper

NM_000392.5

p.F824S

c.2471T>C

2 papers

NM_000392.5

p.S821G

c.2461A>G

2 papers

NM_000392.5

p.S821_M822del2

c.2461_2465del6

1 paper

NM_000392.5

p.T819I

c.2456C>T

12 papers

NM_000392.5

p.L849R

c.2546T>G

1 paper

NM_000392.5

p.K852delFs

c.2556delA