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

7 papers

NM_001163941.2

p.Q262K

c.784C>A

Surrounding Variants

1 paper

NM_001163941.2

p.R260K

c.779G>A

1 paper

NM_001163941.2

p.E265G

c.794A>G

1 paper

NM_001163941.2

p.A258D

c.773C>A

2 papers

NM_001163941.2

p.R268Splc

c.803+5T>G

1 paper

NM_001163941.2

p.L250_R260delFs

c.748_778del31

1 paper

NM_001163941.2

p.E247Q

c.739G>C

1 paper

NM_001163941.2

p.S240F

c.719C>T

1 paper

NM_001163941.2

p.L231L

c.693G>A

1 paper

NM_001163941.2

p.L231S

c.692T>C

1 paper

NM_001163941.2

p.M227L

c.679A>C

1 paper

NM_001163941.2

p.M227L

c.679A>T

1 paper

NM_001163941.2

p.Q271E

c.811C>G