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.A1153P

c.3457G>C

Surrounding Variants

1 paper

NM_001288985.2

p.P1171S

c.3511C>T

1 paper

NM_001288985.2

p.L1189_F1190delFs

c.3567_3568delAG

1 paper

NM_001288985.2

p.S1191fs

c.3571_3572fs

1 paper

NM_007168.4

p.R1154*

c.3460C>T

1 paper

NM_001288985.2

p.T1216S

c.3646A>T

1 paper

NM_001288985.2

p.T1216S

c.3647C>G

2 papers

NM_001288985.2

p.R1218*

c.3652C>T

1 paper

NM_001288985.2

p.M1229V

c.3685A>G

1 paper

NM_001288985.2

p.V1143I

c.3427G>A

1 paper

NM_001288985.2

p.N1133fs

c.3397_3398fs

1 paper

NM_001288985.2

p.R1128H

c.3383G>A

1 paper

NM_001288985.2

p.I1117I

c.3351C>T