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.A379E

c.1136C>A

Surrounding Variants

1 paper

NM_005845.5

p.E378Q

c.1132G>C

1 paper

NM_005845.5

p.V381A

c.1142T>C

1 paper

NM_005845.5

p.V381V

c.1143C>T

1 paper

NM_005845.5

p.R375S

c.1125G>T

1 paper

NM_005845.5

p.R375S

c.1125G>C

1 paper

NM_005845.5

p.R375K

c.1124G>A

1 paper

NM_005845.5

p.R384*

c.1150C>T

1 paper

NM_005845.5

p.I386M

c.1158C>G

1 paper

NM_005845.5

p.P370L

c.1109C>T

2 papers

NM_005845.5

p.F368L

c.1104C>G

2 papers

NM_005845.5

p.F368L

c.1104C>A

1 paper

NM_005845.5

p.Q387_T388Splc

c.1161+8T>A