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

2 papers

NM_001163941.2

p.V198A

c.593T>C

Surrounding Variants

1 paper

NM_001163941.2

p.S193S

c.579G>T

1 paper

NM_001163941.2

p.G203D

c.608G>A

2 papers

NM_001163941.2

p.Q187*

c.559C>T

1 paper

NM_001163941.2

p.V209V

c.627G>T

1 paper

NM_001163941.2

p.F186F

c.558T>C

1 paper

NM_001163941.2

p.S212F

c.635C>T

1 paper

NM_001163941.2

p.L184M

c.550C>A

1 paper

NM_001163941.2

p.P215S

c.643C>T

2 papers

NM_001163941.2

p.K181*

c.541A>T

1 paper

NM_001163941.2

p.A221E

c.662C>A

1 paper

NM_001163941.2

p.A221V

c.662C>T

1 paper

NM_001163941.2

p.A221A

c.663G>A