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

1–12 of 162 variants

3 papers

NM_001288985.2

p.G331S

c.991G>A

3 papers

NM_001288985.2

p.A682S

c.2044G>T

2 papers

NM_001288985.2

p.V8A

c.23T>C

2 papers

NM_001288985.2

p.S57Y

c.170C>A

2 papers

NM_001288985.2

p.G394S

c.1180G>A

2 papers

NM_001288985.2

p.F419S

c.1256T>C

2 papers

NM_001288985.2

p.E508K

c.1522G>A

2 papers

NM_001288985.2

p.E642*

c.1924G>T

2 papers

NM_001288985.2

p.A682T

c.2044G>A

2 papers

NM_001288985.2

p.S713Splc

c.2139-2A>G

2 papers

NM_001288985.2

p.R1218*

c.3652C>T

2 papers

NM_001288985.2

p.V1309I

c.3925G>A