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.T1855delFs

c.5564delG

Surrounding Variants

1 paper

NM_000350.3

p.V1857fs

c.5569_5570fs

1 paper

NM_000350.3

p.V1857G

c.5570T>G

7 papers

NM_000350.3

p.V1854L

c.5560G>T

7 papers

NM_000350.3

p.V1854L

c.5560G>C

1 paper

NM_000350.3

p.A1853insFs

c.5558dupC

1 paper

NM_000350.3

p.V1857delFs

c.5569_5570delAC

3 papers

NM_000350.3

p.Y1858D

c.5572T>G

10 papers

NM_000350.3

p.Y1858N

c.5572T>A

1 paper

NM_000350.3

p.D1856_V1857del2

c.5566_5570del6

1 paper

NM_000350.3

p.A1853insFs

c.5558_5559insT

3 papers

NM_000350.3

p.G1844_A1853ins3

c.5531_5557dup27

3 papers

NM_000350.3

p.A1853D

c.5558C>A