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.E1152_V1153Splc

c.3456+2T>C

Surrounding Variants

1 paper

NM_005845.5

p.L1150S

c.3449T>C

1 paper

NM_005845.5

p.E1145K

c.3433G>A

11 papers

NM_005845.5

p.T1142M

c.3425C>T

1 paper

NM_005845.5

p.E1140K

c.3418G>A

1 paper

NM_005845.5

p.Q1122_E1123Splc

c.3366+1243C>T

1 paper

NM_005845.5

p.Q1122_E1123Splc

c.3366+1243C>A

1 paper

NM_005845.5

p.L1155F

c.3463C>T

1 paper

NM_005845.5

p.G1164S

c.3490G>A

1 paper

NM_005845.5

p.K1165E

c.3493A>G

1 paper

NM_005845.5

p.L1170I

c.3508T>A

1 paper

NM_005845.5

p.S1178C

c.3532A>T

1 paper

NM_005845.5

p.C1186G

c.3556T>G