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

1 paper

NM_001163941.2

p.D169Splc

c.506+17G>T

Surrounding Variants

2 papers

NM_001163941.2

p.R166H

c.497G>A

1 paper

NM_001163941.2

p.G161G

c.483T>G

1 paper

NM_001163941.2

p.D159N

c.475G>A

3 papers

NM_001163941.2

p.F155V

c.463T>G

1 paper

NM_001163941.2

p.G153D

c.458G>A

1 paper

NM_001163941.2

p.V147A

c.440T>C

2 papers

NM_001163941.2

p.K181*

c.541A>T

1 paper

NM_001163941.2

p.R138S

c.414G>C

1 paper

NM_001163941.2

p.R138S

c.414G>T

1 paper

NM_001163941.2

p.R138W

c.412A>T

1 paper

NM_001163941.2

p.L184M

c.550C>A

1 paper

NM_001163941.2

p.T136S

c.407C>G