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

13 papers

NM_000392.5

p.K813_T814Splc

c.2439+2T>C

Surrounding Variants

2 papers

NM_000392.5

p.K813N

c.2439G>C

1 paper

NM_000392.5

p.K813N

c.2439G>T

3 papers

NM_000392.5

p.K813_T814Splc

c.2439+5G>A

1 paper

NM_000392.5

p.L809delFs

c.2426delT

1 paper

NM_000392.5

p.L809fs

c.2425_2426fs

3 papers

NM_000392.5

p.G808V

c.2423G>T

1 paper

NM_000392.5

p.G808S

c.2422G>A

1 paper

NM_000392.5

p.N807S

c.2420A>G

1 paper

NM_000392.5

p.G805delFs

c.2414delG

1 paper

NM_000392.5

p.N801I

c.2402A>T

1 paper

NM_000392.5

p.K813_T814Splc

c.2439+52G>A

1 paper

NM_000392.5

p.K797fs

c.2389_2390fs