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.G432S

c.1294G>A

Surrounding Variants

1 paper

NM_001606.5

p.R431W

c.1291C>T

1 paper

NM_001606.5

p.R430delins

c.1289_1290delinsTT

2 papers

NM_001606.5

p.A428E

c.1283C>A

2 papers

NM_001606.5

p.T440M

c.1319C>T

1 paper

NM_001606.5

p.T440T

c.1320G>T

1 paper

NM_001606.5

p.L447V

c.1339C>G

1 paper

NM_001606.5

p.G448S

c.1342G>A

1 paper

NM_001606.5

p.Q444_L447delFs

c.1332_1341del10

1 paper

NM_001606.5

p.L453P

c.1358T>C

1 paper

NM_001606.5

p.M454delins

c.1360_1361delinsTT

1 paper

NM_001606.5

p.M454I

c.1362G>A

1 paper

NM_001606.5

p.S456G

c.1366A>G