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.A322G

c.965C>G

Surrounding Variants

1 paper

NM_001606.5

p.G325_D326delins

c.975_976delinsTT

1 paper

NM_001606.5

p.D329Y

c.985G>T

1 paper

NM_001606.5

p.D329H

c.985G>C

1 paper

NM_001606.5

p.P315L

c.944C>T

4 papers

NM_212533.3

p.Q343*

c.1027C>T

NM_001606.5

p.Q313*

c.937C>T

1 paper

NM_001606.5

p.G307_P312delFs

c.921_934del14

1 paper

NM_001606.5

p.K332insFs

c.995dupA

1 paper

NM_001606.5

p.S311S

c.933G>A

1 paper

NM_001606.5

p.S311*

c.932C>A

1 paper

NM_001606.5

p.L334L

c.1000C>T

1 paper

NM_001606.5

p.D309_S310delins

c.927_928delinsAA

1 paper

NM_001606.5

p.Q335*

c.1003C>T