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.Q15*

c.43C>T

Surrounding Variants

1 paper

NM_001163941.2

p.R16*

c.46A>T

1 paper

NM_001163941.2

p.N13Y

c.37A>T

1 paper

NM_001163941.2

p.E12K

c.34G>A

1 paper

NM_001163941.2

p.Q11Q

c.33A>G

1 paper

NM_001163941.2

p.M10L

c.28A>T

1 paper

NM_001163941.2

p.E5Q

c.13G>C

7 papers

NM_001163941.2

p.M1T

c.2T>C

1 paper

NM_001163941.2

p.G18Splc

c.53+78A>G

1 paper

NM_001163941.2

p.G18Splc

c.53+108C>T

1 paper

NM_001163941.2

p.G18Splc

c.53+135C>T

1 paper

NM_001163941.2

p.A20E

c.59C>A

1 paper

NM_001163941.2

p.Q23*

c.67C>T