Varaico: Literature-Extracted Genetic Variants

ABCC4

410 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

ABC_membraneaa 92–365UCSCABC transporter transmembrane region

ABC_tranaa 428–563UCSCABC transporter

ABC_membraneaa 714–993UCSCABC transporter transmembrane region

ABC_tranaa 1058–1205UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 4

HGNC Alias Symbols

MRP4; EST170205; MOAT-B; MOATB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005845.5

p.A138V

c.413C>T

Surrounding Variants

2 papers

NM_005845.5

p.T139A

c.415A>G

1 paper

NM_005845.5

p.L141L

c.421C>T

4 papers

NM_005845.5

p.L141M

c.421C>A

1 paper

NM_005845.5

p.Y135F

c.404A>T

1 paper

NM_005845.5

p.A134S

c.400G>T

1 paper

NM_005845.5

p.C144S

c.431G>C

1 paper

NM_005845.5

p.L131L

c.393G>A

1 paper

NM_005845.5

p.T145M

c.434C>T

1 paper

NM_005845.5

p.L131L

c.391T>C

2 papers

NM_005845.5

p.L146L

c.438C>G

1 paper

NM_005845.5

p.S128A

c.382T>G

1 paper

NM_005845.5

p.A149T

c.445G>A