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.R891L

c.2672G>T

Surrounding Variants

1 paper

NM_005845.5

p.R891C

c.2671C>T

12 papers

NM_005845.5

p.E893*

c.2677G>T

5 papers

NM_005845.5

p.E893K

c.2677G>A

1 paper

NM_005845.5

p.L883fs

c.2647_2648fs

1 paper

NM_005845.5

p.R879R

c.2637G>A

1 paper

NM_005845.5

p.L878P

c.2633T>C

2 papers

NM_005845.5

p.I866V

c.2596A>G

3 papers

NM_005845.5

p.V860M

c.2578G>A

2 papers

NM_005845.5

p.A859G

c.2576C>G

1 paper

NM_005845.5

p.V858L

c.2572G>T

1 paper

NM_005845.5

p.V858L

c.2572G>C

7 papers

NM_005845.5

p.V854F

c.2560G>T