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.K365Q

c.1093A>C

Surrounding Variants

1 paper

NM_001163941.2

p.K365E

c.1093A>G

1 paper

NM_001163941.2

p.A355T

c.1063G>A

1 paper

NM_001163941.2

p.R353*

c.1057C>T

1 paper

NM_001163941.2

p.K365_K366Splc

c.1095+61C>T

1 paper

NM_001163941.2

p.V343I

c.1027G>A

1 paper

NM_001163941.2

p.G340V

c.1019G>T

2 papers

NM_001163941.2

p.S335S

c.1005C>T

1 paper

NM_001163941.2

p.I333F

c.997A>T

1 paper

NM_001163941.2

p.A327_V328Splc

c.982-44A>G

2 papers

NM_001163941.2

p.I369V

c.1105A>G

5 papers

NM_001163941.2

p.D370G

c.1109A>G

1 paper

NM_001163941.2

p.A375P

c.1123G>C