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.F924L

c.2770T>C

Surrounding Variants

1 paper

NM_001163941.2

p.F924L

c.2772C>A

1 paper

NM_001163941.2

p.F924L

c.2772C>G

3 papers

NM_001163941.2

p.S925I

c.2774G>T

2 papers

NM_001163941.2

p.A915T

c.2743G>A

2 papers

NM_001163941.2

p.A934A

c.2802G>A

1 paper

NM_001163941.2

p.R938Q

c.2813G>A

1 paper

NM_001163941.2

p.R948*

c.2842C>T

1 paper

NM_001163941.2

p.E952K

c.2854G>A

1 paper

NM_001163941.2

p.I956L

c.2866A>C

1 paper

NM_001163941.2

p.I956L

c.2866A>T

1 paper

NM_001163941.2

p.R909Splc

c.2727-123C>T

2 papers

NM_001163941.2

p.Q905H

c.2715G>C