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.C61S

c.181T>A

Surrounding Variants

1 paper

NM_001163941.2

p.C61S

c.182G>C

1 paper

NM_001163941.2

p.P63T

c.187C>A

1 paper

NM_001163941.2

p.P63S

c.187C>T

1 paper

NM_001163941.2

p.M65K

c.194T>A

1 paper

NM_001163941.2

p.P66L

c.197C>T

1 paper

NM_001163941.2

p.N75_L76delFs

c.224_227del4

2 papers

NM_001163941.2

p.L47F

c.139C>T

1 paper

NM_001163941.2

p.L76I

c.226C>A

1 paper

NM_001163941.2

p.D44D

c.132C>T

1 paper

NM_001163941.2

p.G79V

c.236G>T

1 paper

NM_001163941.2

p.V82A

c.245T>C

5 papers

NM_001163941.2

p.I36_F37Splc

c.108+1G>C