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

1–12 of 337 variants

9 papers

NM_005688.4

p.V893L

c.2677G>T

5 papers

NM_005688.4

p.Q382Q

c.1146A>G

4 papers

NM_005688.4

p.A395A

c.1185T>C

4 papers

NM_005688.4

p.S400N

c.1199G>A

4 papers

NM_005688.4

p.L1208L

c.3624C>T

3 papers

NM_005688.4

p.P43_L44Splc

c.129+7980C>T

3 papers

NM_005688.4

p.M130V

c.388A>G

3 papers

NM_005688.4

p.F174S

c.521T>C

3 papers

NM_005688.4

p.S501Y

c.1502C>A

3 papers

NM_005688.4

p.C594C

c.1782T>C

3 papers

NM_005688.4

p.L1090delFs

c.3269delA

2 papers

NM_005688.4

p.R21G

c.61A>G