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.D1187G

c.3560A>G

Surrounding Variants

1 paper

NM_001163941.2

p.S1184P

c.3550T>C

2 papers

NM_001163941.2

p.T1183P

c.3547A>C

1 paper

NM_001163941.2

p.E1181Q

c.3541G>C

1 paper

NM_001163941.2

p.G1158D

c.3473G>A

3 papers

NM_001163941.2

p.Y1145Y

c.3435C>T

2 papers

NM_001163941.2

p.Q1195*

c.3583C>T

1 paper

NM_001163941.2

p.L1226L

c.3676C>T

1 paper

NM_001163941.2

p.D1245E

c.3735C>A

1 paper

NM_001163941.2

p.D1245E

c.3735C>G

1 paper

NM_001163941.2

p.E1124K

c.3370G>A

1 paper

NM_001163941.2

p.R1118H

c.3353G>A

1 paper

NM_001163941.2

p.R1118C

c.3352C>T