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

3 papers

NM_000392.5

p.D158D

c.474C>T

Surrounding Variants

1 paper

NM_000392.5

p.D158N

c.472G>A

1 paper

NM_000392.5

p.D158Y

c.472G>T

1 paper

NM_000392.5

p.S160_N161delFs

c.478_482del5

1 paper

NM_000392.5

p.G157V

c.470G>T

1 paper

NM_000392.5

p.S160T

c.478T>A

1 paper

NM_000392.5

p.S160fs

c.478_479fs

1 paper

NM_000392.5

p.S160S

c.480T>A

1 paper

NM_000392.5

p.N161S

c.482A>G

1 paper

NM_000392.5

p.A163delFs

c.488delC

1 paper

NM_000392.5

p.Y164N

c.490T>A

1 paper

NM_000392.5

p.C166S

c.497G>C

1 paper

NM_000392.5

p.F168L

c.502T>C