Varaico: Literature-Extracted Genetic Variants

ABCA2

207 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 685–912UCSCABC-2 family transporter protein

ABC_tranaa 1007–1151UCSCABC transporter

ACT_13aa 1243–1314UCSCACT-like domain

ABC2_membrane_3aa 1701–2008UCSCABC-2 family transporter protein

ABC_tranaa 2070–2214UCSCABC transporter

R1_ABCA1aa 2277–2350UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 2

HGNC Previous Symbol

ABC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001606.5

p.E226D

c.678G>T

Surrounding Variants

1 paper

NM_001606.5

p.E226D

c.678G>C

1 paper

NM_001606.5

p.M225L

c.673A>T

1 paper

NM_001606.5

p.F223fs

c.667_668fs

1 paper

NM_001606.5

p.P221L

c.662C>T

1 paper

NM_001606.5

p.G219D

c.656G>A

3 papers

NM_212533.3

p.G248fs

c.742_743fs

NM_001606.5

p.G218fs

c.652_653fs

3 papers

NM_212533.3

p.L247insFs

c.740dupT

NM_001606.5

p.L217insFs

c.650dupT

1 paper

NM_001606.5

p.L217V

c.649C>G

2 papers

NM_001606.5

p.R216H

c.647G>A

1 paper

NM_001606.5

p.R216G

c.646C>G

1 paper

NM_001606.5

p.E212K

c.634G>A

1 paper

NM_001606.5

p.K209N

c.627G>T