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.G467R

c.1399G>A

Surrounding Variants

1 paper

NM_005845.5

p.S470S

c.1410C>T

1 paper

NM_005845.5

p.A463G

c.1388C>G

1 paper

NM_005845.5

p.V471M

c.1411G>A

3 papers

NM_005845.5

p.V458M

c.1372G>A

1 paper

NM_005845.5

p.A457P

c.1369G>C

1 paper

NM_005845.5

p.S453S

c.1359A>C

1 paper

NM_005845.5

p.S453T

c.1357T>A

1 paper

NM_005845.5

p.V484M

c.1450G>A

11 papers

NM_005845.5

p.G487E

c.1460G>A

1 paper

NM_005845.5

p.W483_G487delFs

c.1447_1459del13

1 paper

NM_005845.5

p.F495S

c.1484T>C

5 papers

NM_005845.5

p.K498E

c.1492A>G