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.K836K

c.2508A>G

Surrounding Variants

1 paper

NM_005688.4

p.P842S

c.2524C>T

2 papers

NM_005688.4

p.Q851P

c.2552A>C

1 paper

NM_005688.4

p.G854R

c.2560G>C

1 paper

NM_005688.4

p.G854R

c.2560G>A

1 paper

NM_005688.4

p.A874T

c.2620G>A

1 paper

NM_005688.4

p.G889R

c.2665G>C

1 paper

NM_005688.4

p.G889R

c.2665G>A

9 papers

NM_005688.4

p.V893L

c.2677G>T

1 paper

NM_005688.4

p.V893M

c.2677G>A

1 paper

NM_005688.4

p.S900S

c.2700G>A

2 papers

NM_005688.4

p.D949V

c.2846A>T

1 paper

NM_005688.4

p.E950K

c.2848G>A