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

1 paper

NM_005688.4

p.P559P

c.1677C>T

Surrounding Variants

1 paper

NM_005688.4

p.P559L

c.1676C>T

1 paper

NM_005688.4

p.P557A

c.1669C>G

1 paper

NM_005688.4

p.E555K

c.1663G>A

1 paper

NM_005688.4

p.H566Y

c.1696C>T

1 paper

NM_005688.4

p.G547D

c.1640G>A

1 paper

NM_005688.4

p.R573H

c.1718G>A

1 paper

NM_005688.4

p.Q545Q

c.1635G>A

1 paper

NM_005688.4

p.L574S

c.1721T>C

1 paper

NM_005688.4

p.A543A

c.1629A>T

1 paper

NM_005688.4

p.A543A

c.1629A>G

1 paper

NM_005688.4

p.R576K

c.1727G>A

1 paper

NM_005688.4

p.D582V

c.1745A>T