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.P12L

c.35C>T

Surrounding Variants

1 paper

NM_005845.5

p.P12_L13ins2

c.36_37ins6

7 papers

NM_005845.5

p.L13R

c.38T>G

1 paper

NM_005845.5

p.L13L

c.39G>C

1 paper

NM_005845.5

p.P10R

c.29C>G

13 papers

NM_005845.5

p.L18I

c.52C>A

1 paper

NM_005845.5

p.C19ins2

c.55_56ins6

1 paper

NM_005845.5

p.Y5Y

c.15C>T

2 papers

NM_005845.5

p.C19Y

c.56G>A

1 paper

NM_005845.5

p.Y5delFs

c.13delA

1 paper

NM_005845.5

p.S20L

c.59C>T

1 paper

NM_005845.5

p.R21C

c.61C>T

1 paper

NM_005845.5

p.L2insFs

c.5dupT