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.G851S

c.2551G>A

Surrounding Variants

1 paper

NM_000350.3

p.G851A

c.2552G>C

16 papers

NM_000350.3

p.G851D

c.2552G>A

26 papers

NM_000350.3

p.Y850C

c.2549A>G

2 papers

NM_000350.3

p.Y850insFs

c.2548dupT

1 paper

NM_000350.3

p.V849_Y850insFs

c.2547_2548dupCT

1 paper

NM_000350.3

p.Y850fs

c.2548_2549fs

1 paper

NM_000350.3

p.L852fs

c.2554_2555fs

20 papers

NM_000350.3

p.V849A

c.2546T>C

1 paper

NM_000350.3

p.L852delFs

c.2556delT

4 papers

NM_000350.3

p.A848D

c.2543C>A

1 paper

NM_000350.3

p.A848delFs

c.2542delC

1 paper

NM_000350.3

p.A847_A848delFs

c.2541_2542delCA