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

1–12 of 637 variants

3 papers

NM_001606.5

p.Q313*

c.937C>T

3 papers

NM_001606.5

p.T398K

c.1193C>A

3 papers

NM_001606.5

p.R2394Q

c.7181G>A

2 papers

NM_001606.5

p.L33R

c.98T>G

2 papers

NM_001606.5

p.R80Q

c.239G>A

2 papers

NM_001606.5

p.S119S

c.357A>G

2 papers

NM_001606.5

p.R125C

c.373C>T

2 papers

NM_001606.5

p.R164H

c.491G>A

2 papers

NM_001606.5

p.R216H

c.647G>A

2 papers

NM_001606.5

p.L217insFs

c.650dupT

2 papers

NM_001606.5

p.G218fs

c.652_653fs

2 papers

NM_001606.5

p.A428E

c.1283C>A