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.G78S

c.232G>A

Surrounding Variants

1 paper

NM_001606.5

p.D77E

c.231C>G

1 paper

NM_001606.5

p.D77E

c.231C>A

1 paper

NM_001606.5

p.Q79P

c.236A>C

1 paper

NM_001606.5

p.Q79insFs

c.236_237insT

2 papers

NM_001606.5

p.R80Q

c.239G>A

1 paper

NM_001606.5

p.C75Y

c.224G>A

1 paper

NM_001606.5

p.D81Y

c.241G>T

1 paper

NM_001606.5

p.E82D

c.246G>T

1 paper

NM_001606.5

p.F85F

c.255C>T

1 paper

NM_001606.5

p.L68insFs

c.203dupT

1 paper

NM_001606.5

p.I67F

c.199A>T

1 paper

NM_001606.5

p.I67V

c.199A>G