Varaico: Literature-Extracted Genetic Variants

ABCA8

138 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular...

Pfam Domains

ABC2_membrane_3aa 29–418UCSCABC-2 family transporter protein

ABC_tranaa 499–645UCSCABC transporter

ACT_13aa 710–783UCSCACT-like domain

ABC2_membrane_3aa 910–1217UCSCABC-2 family transporter protein

ABC_tranaa 1306–1446UCSCABC transporter

R1_ABCA1aa 1510–1584UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 8

HGNC Alias Symbol

KIAA0822

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001288985.2

p.N19K

c.57C>A

Surrounding Variants

1 paper

NM_001288985.2

p.N19K

c.57C>G

1 paper

NM_001288985.2

p.M26I

c.78G>T

1 paper

NM_001288985.2

p.M26I

c.78G>C

1 paper

NM_001288985.2

p.M26I

c.78G>A

1 paper

NM_001288985.2

p.S30F

c.89C>T

2 papers

NM_001288985.2

p.V8A

c.23T>C

1 paper

NM_001288985.2

p.M32_E33Splc

c.97-61T>C

1 paper

NM_001288985.2

p.Y45C

c.134A>G

1 paper

NM_001288985.2

p.P48R

c.143C>G

2 papers

NM_001288985.2

p.S57Y

c.170C>A

1 paper

NM_001288985.2

p.L60I

c.178C>A

1 paper

NM_001288985.2

p.G65R

c.193G>C