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

2 papers

NM_005845.5

p.V1071I

c.3211G>A

Surrounding Variants

1 paper

NM_005845.5

p.I1073F

c.3217A>T

1 paper

NM_005845.5

p.G1075R

c.3223G>C

1 paper

NM_005845.5

p.G1075R

c.3223G>A

1 paper

NM_005845.5

p.G1078A

c.3233G>C

1 paper

NM_005845.5

p.K1081N

c.3243A>T

1 paper

NM_005845.5

p.K1081N

c.3243A>C

1 paper

NM_005845.5

p.S1083C

c.3248C>G

1 paper

NM_005845.5

p.D1101N

c.3301G>A

1 paper

NM_005845.5

p.L1104L

c.3310T>C

1 paper

NM_005845.5

p.T1105K

c.3314C>A

2 papers

NM_005845.5

p.E1107A

c.3320A>C

1 paper

NM_005845.5

p.D1112Y

c.3334G>T