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.L866R

c.2597T>G

Surrounding Variants

1 paper

NM_001288985.2

p.G922Splc

c.2764+1G>T

1 paper

NM_001288985.2

p.L866R

c.2597T>G

1 paper

NM_001288985.2

p.A865V

c.2594C>T

1 paper

NM_001288985.2

p.R852S

c.2554C>A

1 paper

NM_001288985.2

p.C846C

c.2538C>T

1 paper

NM_001288985.2

p.W841R

c.2521T>A

1 paper

NM_001288985.2

p.N829K

c.2487C>G

1 paper

NM_001288985.2

p.N829K

c.2487C>A

1 paper

NM_001288985.2

p.A809V

c.2426C>T

1 paper

NM_001288985.2

p.A809S

c.2425G>T

1 paper

NM_007168.4

p.D760Splc

c.2279-2A>G

1 paper

NM_007168.4

p.M740insFs

c.2219_2220dupTG