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

2 papers

NM_001163941.2

p.T552M

c.1655C>T

Surrounding Variants

1 paper

NM_001163941.2

p.S559N

c.1676G>A

4 papers

NM_001163941.2

p.K560E

c.1678A>G

1 paper

NM_001163941.2

p.R537H

c.1610G>A

1 paper

NM_001163941.2

p.R537S

c.1609C>A

1 paper

NM_001163941.2

p.Q531K

c.1591C>A

1 paper

NM_001163941.2

p.Q531*

c.1591C>T

1 paper

NM_001163941.2

p.G527E

c.1580G>A

1 paper

NM_001163941.2

p.Q524*

c.1570C>T

1 paper

NM_001163941.2

p.G522delFs

c.1564delG

1 paper

NM_001163941.2

p.E520D

c.1560A>C

1 paper

NM_001163941.2

p.E520D

c.1560A>T

1 paper

NM_001163941.2

p.E520*

c.1558G>T