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.A387S

c.1159G>T

Surrounding Variants

1 paper

NM_001288985.2

p.P391Q

c.1172C>A

2 papers

NM_001288985.2

p.G394S

c.1180G>A

1 paper

NM_001288985.2

p.G394fs

c.1180_1181fs

1 paper

NM_001288985.2

p.G394delFs

c.1181delC

1 paper

NM_001288985.2

p.I398T

c.1193T>C

1 paper

NM_001288985.2

p.L405*

c.1214T>A

1 paper

NM_001288985.2

p.L413P

c.1238T>C

2 papers

NM_001288985.2

p.F419S

c.1256T>C

1 paper

NM_001288985.2

p.Y350C

c.1049A>G

1 paper

NM_001288985.2

p.G345E

c.1034G>A

3 papers

NM_001288985.2

p.G331S

c.991G>A

1 paper

NM_001288985.2

p.T330I

c.989C>T