Varaico: Literature-Extracted Genetic Variants

ABCC5

196 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 179–447UCSCABC transporter transmembrane region

ABC_tranaa 578–713UCSCABC transporter

ABC_membraneaa 859–1143UCSCABC transporter transmembrane region

ABC_tranaa 1210–1358UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 5

HGNC Alias Symbols

MRP5; SMRP; EST277145; MOAT-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005688.4

p.C594C

c.1782T>C

Surrounding Variants

1 paper

NM_005688.4

p.G595A

c.1784G>C

1 paper

NM_005688.4

p.G588S

c.1762G>A

1 paper

NM_005688.4

p.L609F

c.1827A>T

1 paper

NM_005688.4

p.L609F

c.1827A>C

1 paper

NM_005688.4

p.Q611_M612Splc

c.1834-621A>G

1 paper

NM_005688.4

p.Q611_M612Splc

c.1834-5C>A

1 paper

NM_005688.4

p.M612I

c.1836G>T

1 paper

NM_005688.4

p.Y627C

c.1880A>G

1 paper

NM_005688.4

p.A632G

c.1895C>G

2 papers

NM_005688.4

p.W633*

c.1898G>A

1 paper

NM_005688.4

p.R640K

c.1919G>A

2 papers

NM_005688.4

p.N642S

c.1925A>G