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.V412A

c.1235T>C

Surrounding Variants

1 paper

NM_005845.5

p.V412V

c.1236G>A

1 paper

NM_005845.5

p.V410L

c.1228G>T

3 papers

NM_005845.5

p.A417T

c.1249G>A

1 paper

NM_005845.5

p.F418C

c.1253T>G

1 paper

NM_005845.5

p.G406D

c.1217G>A

7 papers

NM_005845.5

p.P403L

c.1208C>T

1 paper

NM_005845.5

p.D420_K421del1

c.1260_1262delTTA

1 paper

NM_005845.5

p.R400L

c.1199G>T

5 papers

NM_005845.5

p.R400H

c.1199G>A

1 paper

NM_005845.5

p.Q397del1

c.1189_1190delCTG

1 paper

NM_005845.5

p.R398S

c.1192C>A

1 paper

NM_005845.5

p.E394fs

c.1180_1181fs