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.S108insFs

c.322dupT

Surrounding Variants

1 paper

NM_005688.4

p.S108fs

c.322_323fs

1 paper

NM_005688.4

p.F107C

c.320T>G

1 paper

NM_005688.4

p.C109C

c.327T>C

1 paper

NM_005688.4

p.A104T

c.310G>A

1 paper

NM_005688.4

p.S113P

c.337T>C

1 paper

NM_005688.4

p.W114*

c.341G>A

2 papers

NM_005688.4

p.S117F

c.350C>T

1 paper

NM_005688.4

p.H97Y

c.289C>T

1 paper

NM_005688.4

p.R120H

c.359G>A

1 paper

NM_005688.4

p.A122G

c.365C>G

1 paper

NM_005688.4

p.H123Q

c.369C>G

1 paper

NM_005688.4

p.E127G

c.380A>G