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.D202delFs

c.604delC

Surrounding Variants

1 paper

NM_001606.5

p.A200delins

c.598_599delinsAA

1 paper

NM_001606.5

p.S198S

c.594A>T

1 paper

NM_001606.5

p.S198*

c.593C>G

1 paper

NM_001606.5

p.S198*

c.593C>A

1 paper

NM_001606.5

p.G196insFs

c.587dupG

1 paper

NM_001606.5

p.H208L

c.623A>T

1 paper

NM_001606.5

p.G196S

c.586G>A

1 paper

NM_001606.5

p.K209N

c.627G>T

1 paper

NM_001606.5

p.L193L

c.577C>T

1 paper

NM_001606.5

p.E212K

c.634G>A

1 paper

NM_001606.5

p.H192Y

c.574C>T

1 paper

NM_001606.5

p.Y191C

c.572A>G