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

9 papers

NM_005845.5

p.C171G

c.511T>G

Surrounding Variants

1 paper

NM_005845.5

p.A169A

c.507C>T

1 paper

NM_005845.5

p.H172Q

c.516T>G

1 paper

NM_005845.5

p.H172Q

c.516T>A

5 papers

NM_005845.5

p.I174T

c.521T>C

1 paper

NM_005845.5

p.R165K

c.494G>A

1 paper

NM_005845.5

p.M164L

c.490A>C

1 paper

NM_005845.5

p.G163A

c.488G>C

2 papers

NM_005845.5

p.G163E

c.488G>A

1 paper

NM_005845.5

p.C161Y

c.482G>A

1 paper

NM_005845.5

p.Q160H

c.480G>T

1 paper

NM_005845.5

p.Q160H

c.480G>C

1 paper

NM_005845.5

p.F156L

c.468T>G