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.K45N

c.135G>T

Surrounding Variants

1 paper

NM_001606.5

p.K45N

c.135G>C

1 paper

NM_001606.5

p.Q44Q

c.132G>A

1 paper

NM_001606.5

p.P47A

c.139C>G

1 paper

NM_001606.5

p.P47fs

c.139_140fs

1 paper

NM_001606.5

p.T48A

c.142A>G

1 paper

NM_001606.5

p.I49V

c.145A>G

1 paper

NM_001606.5

p.G41R

c.121G>C

1 paper

NM_001606.5

p.L39P

c.116T>C

1 paper

NM_001606.5

p.L39V

c.115C>G

1 paper

NM_001606.5

p.K52R

c.155A>G

1 paper

NM_001606.5

p.I38T

c.113T>C

1 paper

NM_001606.5

p.V34_F37del0

c.101_109del9