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.Q379*

c.1135C>T

Surrounding Variants

1 paper

NM_005688.4

p.S378F

c.1133C>T

1 paper

NM_005688.4

p.V381A

c.1142T>C

2 papers

NM_005688.4

p.Q382R

c.1145A>G

5 papers

NM_005688.4

p.Q382Q

c.1146A>G

1 paper

NM_005688.4

p.M370L

c.1108A>T

1 paper

NM_005688.4

p.F367C

c.1100T>G

1 paper

NM_005688.4

p.Y364C

c.1091A>G

1 paper

NM_005688.4

p.L362L

c.1086T>C

1 paper

NM_005688.4

p.Q356*

c.1066C>T

1 paper

NM_005688.4

p.V355I

c.1063G>A

2 papers

NM_005688.4

p.E353K

c.1057G>A

1 paper

NM_005688.4

p.K346delFs

c.1038delT