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.R180C

c.538C>T

Surrounding Variants

2 papers

NM_005845.5

p.L179P

c.536T>C

1 paper

NM_005845.5

p.A178E

c.533C>A

1 paper

NM_005845.5

p.S182R

c.544A>C

1 paper

NM_005845.5

p.S182R

c.546T>G

1 paper

NM_005845.5

p.S182R

c.546T>A

1 paper

NM_005845.5

p.N183S

c.548A>G

1 paper

NM_005845.5

p.M184T

c.551T>C

2 papers

NM_005845.5

p.M184K

c.551T>A

37 papers

NM_005845.5

p.G187W

c.559G>T

1 paper

NM_005845.5

p.G187R

c.559G>A

1 paper

NM_005845.5

p.G187G

c.561G>A

1 paper

NM_005845.5

p.N196N

c.588T>C