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.R151K

c.452G>A

Surrounding Variants

1 paper

NM_005688.4

p.L149L

c.447A>G

1 paper

NM_005688.4

p.R148*

c.442A>T

1 paper

NM_005688.4

p.Q154H

c.462A>C

1 paper

NM_005688.4

p.E156G

c.467A>G

1 paper

NM_005688.4

p.G161E

c.482G>A

2 papers

NM_005688.4

p.A164T

c.490G>A

1 paper

NM_005688.4

p.A164G

c.491C>G

1 paper

NM_005688.4

p.R168Q

c.503G>A

1 paper

NM_005688.4

p.R169K

c.506G>A

1 paper

NM_005688.4

p.V170I

c.508G>A

1 paper

NM_005688.4

p.W172*

c.515G>A

3 papers

NM_005688.4

p.F174S

c.521T>C