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.E950K

c.2848G>A

Surrounding Variants

2 papers

NM_005688.4

p.D949V

c.2846A>T

1 paper

NM_005688.4

p.F952F

c.2856C>T

1 paper

NM_005688.4

p.R957Q

c.2870G>A

1 paper

NM_005688.4

p.P959L

c.2876C>T

1 paper

NM_005688.4

p.T965M

c.2894C>T

1 paper

NM_005688.4

p.P967P

c.2901C>A

1 paper

NM_005688.4

p.S900S

c.2700G>A

9 papers

NM_005688.4

p.V893L

c.2677G>T

1 paper

NM_005688.4

p.V893M

c.2677G>A

1 paper

NM_005688.4

p.E991K

c.2971G>A

1 paper

NM_005688.4

p.Q995K

c.2983C>A

1 paper

NM_005688.4

p.N996N

c.2988C>T