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.Y737C

c.2210A>G

Surrounding Variants

1 paper

NM_005845.5

p.Y737Y

c.2211C>T

1 paper

NM_005845.5

p.D732N

c.2194G>A

1 paper

NM_005845.5

p.Q725_V726Splc

c.2176-35T>C

5 papers

NM_005845.5

p.M744V

c.2230A>G

44 papers

NM_005845.5

p.E757K

c.2269G>A

2 papers

NM_005845.5

p.W763*

c.2289G>A

1 paper

NM_005845.5

p.Q725L

c.2174A>T

1 paper

NM_005845.5

p.I718V

c.2152A>G

2 papers

NM_005845.5

p.Y701Y

c.2103T>C

1 paper

NM_005845.5

p.Q699*

c.2095C>T

1 paper

NM_005845.5

p.G697R

c.2089G>C

1 paper

NM_005845.5

p.G694E

c.2081G>A