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.C1186G

c.3556T>G

Surrounding Variants

1 paper

NM_005845.5

p.A1190E

c.3569C>A

1 paper

NM_005845.5

p.S1178C

c.3532A>T

1 paper

NM_005845.5

p.L1170I

c.3508T>A

2 papers

NM_005845.5

p.E1202Q

c.3604G>C

1 paper

NM_005845.5

p.A1203V

c.3608C>T

2 papers

NM_005845.5

p.A1203A

c.3609G>A

1 paper

NM_005845.5

p.A1205T

c.3613G>A

1 paper

NM_005845.5

p.K1165E

c.3493A>G

1 paper

NM_005845.5

p.G1164S

c.3490G>A

1 paper

NM_005845.5

p.L1155F

c.3463C>T

1 paper

NM_005845.5

p.I1219insFs

c.3655dupA

1 paper

NM_005845.5

p.I1219delFs

c.3655delT