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.A1094V

c.3281C>T

Surrounding Variants

1 paper

NM_005688.4

p.T1092M

c.3275C>T

2 papers

NM_005688.4

p.L1090fs

c.3268_3269fs

3 papers

NM_005688.4

p.L1090delFs

c.3269delA

1 paper

NM_005688.4

p.L1090fs

c.3268_3269fs

1 paper

NM_005688.4

p.A1108T

c.3322G>A

1 paper

NM_005688.4

p.P1126P

c.3378A>G

1 paper

NM_005688.4

p.Q1138_L1139Splc

c.3414+50C>G

2 papers

NM_005688.4

p.Q1138_L1139Splc

c.3414+434A>C

2 papers

NM_005688.4

p.F1145F

c.3435T>C

1 paper

NM_005688.4

p.R1148R

c.3444A>G

1 paper

NM_005688.4

p.E1154K

c.3460G>A

1 paper

NM_005688.4

p.Y1166C

c.3497A>G