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.L121F

c.361C>T

Surrounding Variants

1 paper

NM_001606.5

p.S119S

c.357A>T

2 papers

NM_001606.5

p.S119S

c.357A>G

1 paper

NM_001606.5

p.S119P

c.355T>C

1 paper

NM_001606.5

p.G118D

c.353G>A

1 paper

NM_001606.5

p.G118R

c.352G>C

1 paper

NM_001606.5

p.L124L

c.370C>T

1 paper

NM_001606.5

p.L124V

c.370C>G

2 papers

NM_001606.5

p.R125C

c.373C>T

1 paper

NM_001606.5

p.R125H

c.374G>A

1 paper

NM_001606.5

p.S116T

c.347G>C

1 paper

NM_001606.5

p.Q126L

c.377A>T

1 paper

NM_001606.5

p.P115L

c.344C>T