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.W2169*

c.6507G>A

Surrounding Variants

1 paper

NM_001606.5

p.W2169*

c.6506G>A

1 paper

NM_001606.5

p.A2180T

c.6538G>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.G2185D

c.6554G>A

1 paper

NM_001606.5

p.R2156C

c.6466C>T

1 paper

NM_001606.5

p.R2154W

c.6460C>T

1 paper

NM_001606.5

p.A2138A

c.6414G>A

1 paper

NM_001606.5

p.Q2125_G2131del7

c.6373_6392del21

1 paper

NM_001606.5

p.L2130L

c.6390C>T

2 papers

NM_001606.5

p.Q2127*

c.6379C>T

1 paper

NM_001606.5

p.E2122E

c.6366G>A