Varaico: Literature-Extracted Genetic Variants

ABCA4

1,730 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 608–856UCSCABC-2 family transporter protein

ABC_tranaa 946–1090UCSCABC transporter

ABC2_membrane_3aa 1597–1895UCSCABC-2 family transporter protein

ABC_tranaa 1955–2099UCSCABC transporter

R1_ABCA1aa 2162–2238UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 4

HGNC Previous Symbols

STGD1; ABCR; RP19; STGD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000350.3

p.T1176_C1177insFs

c.3528_3529ins4

Surrounding Variants

6 papers

NM_000350.3

p.T1176fs

c.3526_3527fs

2 papers

NM_000350.3

p.G1175delFs

c.3525delC

6 papers

NM_000350.3

p.C1177*

c.3531C>A

1 paper

NM_000350.3

p.G1175E

c.3524G>A

3 papers

NM_000350.3

p.S1178fs

c.3532_3533fs

1 paper

NM_000350.3

p.S1178insFs

c.3532_3533ins4

1 paper

NM_000350.3

p.C1177delFs

c.3531delG

5 papers

NM_000350.3

p.C1177insFs

c.3529_3530ins4

2 papers

NM_000350.3

p.S1178N

c.3533G>A

12 papers

NM_000350.3

p.E1174_G1175Splc

c.3523-1G>A

2 papers

NM_000350.3

p.S1178fs

c.3532_3533fs

5 papers

NM_000350.3

p.E1174_G1175Splc

c.3523-2A>T