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.F627S

c.1880T>C

Surrounding Variants

1 paper

NM_001288985.2

p.T626I

c.1877C>T

1 paper

NM_001288985.2

p.M606I

c.1818G>T

1 paper

NM_001288985.2

p.M606I

c.1818G>C

1 paper

NM_001288985.2

p.M606I

c.1818G>A

1 paper

NM_001288985.2

p.I637I

c.1911T>C

2 papers

NM_001288985.2

p.E642*

c.1924G>T

1 paper

NM_007168.4

p.P609R

c.1826C>G

1 paper

NM_001288985.2

p.R662C

c.1984C>T

1 paper

NM_001288985.2

p.R666C

c.1996C>T

3 papers

NM_001288985.2

p.A682S

c.2044G>T

2 papers

NM_001288985.2

p.A682T

c.2044G>A

1 paper

NM_001288985.2

p.R576T

c.1727G>C