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

1–12 of 414 variants

44 papers

NM_005845.5

p.E757K

c.2269G>A

37 papers

NM_005845.5

p.G187W

c.559G>T

33 papers

NM_005845.5

p.K304N

c.912G>T

27 papers

NM_005845.5

p.K304N

c.912G>C

13 papers

NM_005845.5

p.L18I

c.52C>A

12 papers

NM_005845.5

p.E893*

c.2677G>T

12 papers

NM_005845.5

p.D1242N

c.3724G>A

11 papers

NM_005845.5

p.G487E

c.1460G>A

11 papers

NM_005845.5

p.T1142M

c.3425C>T

9 papers

NM_005845.5

p.C171G

c.511T>G

7 papers

NM_005845.5

p.L13R

c.38T>G

7 papers

NM_005845.5

p.P403L

c.1208C>T