Varaico: Literature-Extracted Genetic Variants

ABCB5

216 papers

RefSeq Summary

ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molec...

Pfam Domains

ABC_membraneaa 48–337UCSCABC transporter transmembrane region

ABC_tranaa 404–553UCSCABC transporter

ABC_membraneaa 692–966UCSCABC transporter transmembrane region

ABC_tranaa 1033–1184UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 5

HGNC Alias Symbols

EST422562; ABCB5beta; ABCB5alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_001163941.2

p.G810V

c.2429G>T

NM_178559.6

p.G365V

c.1094G>T

Surrounding Variants

1 paper

NM_001163941.2

p.A820S

c.2458G>T

1 paper

NM_001163941.2

p.G807_A808Splc

c.2422-30T>C

1 paper

NM_001163941.2

p.V827I

c.2479G>A

1 paper

NM_001163941.2

p.S830F

c.2489C>T

1 paper

NM_001163941.2

p.V850M

c.2548G>A

2 papers

NM_001163941.2

p.A857T

c.2569G>A

1 paper

NM_001163941.2

p.A858S

c.2572G>T

1 paper

NM_001163941.2

p.A863G

c.2588C>G

1 paper

NM_001163941.2

p.K875_I876Splc

c.2625+95T>C

1 paper

NM_001163941.2

p.E893K

c.2677G>A

1 paper

NM_001163941.2

p.E893*

c.2677G>T

1 paper

NM_001163941.2

p.M899I

c.2697G>A