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.S1091F

c.3272C>T

Surrounding Variants

1 paper

NM_001163941.2

p.I1093T

c.3278T>C

1 paper

NM_001163941.2

p.V1086I

c.3256G>A

1 paper

NM_001163941.2

p.Q1098*

c.3292C>T

1 paper

NM_001163941.2

p.V1101A

c.3302T>C

1 paper

NM_001163941.2

p.L1102I

c.3304C>A

1 paper

NM_001163941.2

p.R1118C

c.3352C>T

1 paper

NM_001163941.2

p.R1118H

c.3353G>A

1 paper

NM_001163941.2

p.E1124K

c.3370G>A

1 paper

NM_001163941.2

p.G1072_Q1073delFs

c.3216_3217delAC

1 paper

NM_001163941.2

p.P1069A

c.3205C>G

1 paper

NM_001163941.2

p.V1060I

c.3178G>A

1 paper

NM_001163941.2

p.S1059T

c.3175T>A