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.R1027H

c.3080G>A

Surrounding Variants

1 paper

NM_001163941.2

p.L1033_R1034delFs

c.3097_3100del4

1 paper

NM_001163941.2

p.S1021delFs

c.3062delC

1 paper

NM_001163941.2

p.L1038F

c.3112C>T

1 paper

NM_001163941.2

p.N1014delFs

c.3042delT

1 paper

NM_001163941.2

p.N1014fs

c.3040_3041fs

5 papers

NM_001163941.2

p.V1049A

c.3146T>C

1 paper

NM_001163941.2

p.P1008_D1009Splc

c.3025-26T>C

2 papers

NM_001163941.2

p.C1054W

c.3162T>G

2 papers

NM_001163941.2

p.K1056E

c.3166A>G

1 paper

NM_001163941.2

p.S1059T

c.3175T>A

1 paper

NM_001163941.2

p.V1060I

c.3178G>A

1 paper

NM_001163941.2

p.P1069A

c.3205C>G