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

1–12 of 258 variants

9 papers

NM_001163941.2

p.G810V

c.2429G>T

7 papers

NM_001163941.2

p.M1T

c.2T>C

7 papers

NM_001163941.2

p.T131I

c.392C>T

7 papers

NM_001163941.2

p.Q262K

c.784C>A

7 papers

NM_001163941.2

p.E970K

c.2908G>A

7 papers

NM_001163941.2

p.D1187G

c.3560A>G

5 papers

NM_001163941.2

p.I36_F37Splc

c.108+1G>C

5 papers

NM_001163941.2

p.D370G

c.1109A>G

5 papers

NM_001163941.2

p.V1049A

c.3146T>C

4 papers

NM_001163941.2

p.K560E

c.1678A>G

3 papers

NM_001163941.2

p.F155V

c.463T>G

3 papers

NM_001163941.2

p.M446T

c.1337T>C