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

7 papers

NM_001163941.2

p.E970K

c.2908G>A

Surrounding Variants

1 paper

NM_001163941.2

p.G969R

c.2905G>A

1 paper

NM_001163941.2

p.G969R

c.2905G>C

3 papers

NM_001163941.2

p.T971M

c.2912C>T

1 paper

NM_001163941.2

p.P976T

c.2926C>A

1 paper

NM_001163941.2

p.A960T

c.2878G>A

2 papers

NM_001163941.2

p.P996Q

c.2987C>A

1 paper

NM_001163941.2

p.K1007insFs

c.3020_3021insC

1 paper

NM_001163941.2

p.P1008_D1009Splc

c.3024+11C>G

1 paper

NM_001163941.2

p.P1008_D1009Splc

c.3025-406C>T

1 paper

NM_001163941.2

p.P1008_D1009Splc

c.3025-26T>C

1 paper

NM_001163941.2

p.N1014fs

c.3040_3041fs

1 paper

NM_001163941.2

p.N1014delFs

c.3042delT