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

33 papers

NM_005845.5

p.K304N

c.912G>T

Surrounding Variants

27 papers

NM_005845.5

p.K304N

c.912G>C

1 paper

NM_005845.5

p.K304K

c.912G>A

1 paper

NM_005845.5

p.E306K

c.916G>A

1 paper

NM_005845.5

p.L311P

c.932T>C

3 papers

NM_005845.5

p.R312R

c.934A>C

1 paper

NM_005845.5

p.R312I

c.935G>T

1 paper

NM_005845.5

p.R312K

c.935G>A

1 paper

NM_005845.5

p.C315W

c.945C>G

6 papers

NM_005845.5

p.R317R

c.951A>G

1 paper

NM_005845.5

p.S323L

c.968C>T

4 papers

NM_005845.5

p.S323S

c.969A>G

1 paper

NM_005845.5

p.S326C

c.976A>T