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

1 paper

NM_000350.3

p.M546L

c.1636A>T

Surrounding Variants

1 paper

NM_000350.3

p.M546L

c.1636A>C

1 paper

NM_000350.3

p.N545fs

c.1633_1634fs

4 papers

NM_000350.3

p.E544_N545insFs

c.1630_1633dup4

1 paper

NM_000350.3

p.E544_M546insFs

c.1632_1638dup7

1 paper

NM_000350.3

p.F547L

c.1639T>C

1 paper

NM_000350.3

p.F547fs

c.1639_1640fs

4 papers

NM_000350.3

p.N545fs

c.1633_1634fs

3 papers

NM_000350.3

p.N545Y

c.1633A>T

2 papers

NM_000350.3

p.N545insFs

c.1633_1634ins4

1 paper

NM_000350.3

p.F547L

c.1641C>G

1 paper

NM_000350.3

p.F547L

c.1641C>A

1 paper

NM_000350.3

p.F547delFs

c.1640delA