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

4 papers

NM_005688.4

p.S400N

c.1199G>A

Surrounding Variants

2 papers

NM_005688.4

p.S400S

c.1200C>T

2 papers

NM_005688.4

p.T402I

c.1205C>T

4 papers

NM_005688.4

p.A395A

c.1185T>C

1 paper

NM_005688.4

p.P407R

c.1220C>G

1 paper

NM_005688.4

p.V409A

c.1226T>C

1 paper

NM_005688.4

p.V410L

c.1228G>T

1 paper

NM_005688.4

p.R390W

c.1168C>T

1 paper

NM_005688.4

p.R389C

c.1165C>T

2 papers

NM_005688.4

p.I412I

c.1236T>C

1 paper

NM_005688.4

p.V415M

c.1243G>A

1 paper

NM_005688.4

p.R385C

c.1153C>T

2 papers

NM_005688.4

p.T423T

c.1269C>T