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.V489V

c.1467G>A

Surrounding Variants

1 paper

NM_001163941.2

p.A503A

c.1509G>A

1 paper

NM_001163941.2

p.V466G

c.1397T>G

1 paper

NM_001163941.2

p.D462N

c.1384G>A

1 paper

NM_001163941.2

p.R458R

c.1374G>C

1 paper

NM_001163941.2

p.V457A

c.1370T>C

1 paper

NM_001163941.2

p.R453*

c.1357A>T

3 papers

NM_001163941.2

p.M446T

c.1337T>C

1 paper

NM_001163941.2

p.F444_I445Splc

c.1333-30C>T

1 paper

NM_001163941.2

p.F444_I445Splc

c.1332+179G>T

1 paper

NM_001163941.2

p.F444_I445Splc

c.1332+167T>A

1 paper

NM_001163941.2

p.F444_I445Splc

c.1332+165C>A

1 paper

NM_001163941.2

p.G424G

c.1272C>G