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.N2275delFs

c.6823delT

Surrounding Variants

1 paper

NM_001606.5

p.S2245delFs

c.6733delT

1 paper

NM_001606.5

p.I2233T

c.6698T>C

2 papers

NM_212533.3

p.L2260L

c.6780T>C

NM_001606.5

p.L2230L

c.6690T>C

1 paper

NM_001606.5

p.R2222W

c.6664C>T

1 paper

NM_001606.5

p.G2216D

c.6647G>A

1 paper

NM_001606.5

p.E2212K

c.6634G>A

1 paper

NM_001606.5

p.R2298W

c.6892C>T

1 paper

NM_001606.5

p.G2185D

c.6554G>A

1 paper

NM_001606.5

p.K2182fs

c.6544_6545fs

1 paper

NM_001606.5

p.K2182insFs

c.6544dupA

1 paper

NM_001606.5

p.A2180T

c.6538G>A

1 paper

NM_001606.5

p.H2313H

c.6939C>T