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.R148Splc

c.443+38G>A

Surrounding Variants

1 paper

NM_005688.4

p.R148Splc

c.443+5G>T

1 paper

NM_005688.4

p.R148*

c.442A>T

1 paper

NM_005688.4

p.N145N

c.435C>T

1 paper

NM_005688.4

p.V144M

c.430G>A

1 paper

NM_005688.4

p.S142P

c.424T>C

1 paper

NM_005688.4

p.E140D

c.420G>T

1 paper

NM_005688.4

p.E140D

c.420G>C

1 paper

NM_005688.4

p.E140K

c.418G>A

1 paper

NM_005688.4

p.H139H

c.417C>T

1 paper

NM_005688.4

p.H139R

c.416A>G

1 paper

NM_005688.4

p.L136L

c.406C>T

3 papers

NM_005688.4

p.M130V

c.388A>G