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.S1091*

c.3272C>A

Surrounding Variants

1 paper

NM_001288985.2

p.S1091*

c.3272C>G

1 paper

NM_001288985.2

p.S1088I

c.3263G>T

1 paper

NM_001288985.2

p.S1075F

c.3224C>T

1 paper

NM_007168.4

p.S1035A

c.3103T>G

1 paper

NM_001288985.2

p.Q1069H

c.3207G>T

1 paper

NM_001288985.2

p.Q1069H

c.3207G>C

1 paper

NM_001288985.2

p.A1051G

c.3152C>G

1 paper

NM_001288985.2

p.I1117I

c.3351C>T

1 paper

NM_001288985.2

p.R1128H

c.3383G>A

1 paper

NM_001288985.2

p.N1133fs

c.3397_3398fs

1 paper

NM_001288985.2

p.V1143I

c.3427G>A

1 paper

NM_001288985.2

p.A1153P

c.3457G>C