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

7 papers

NM_000350.3

p.G1578delFs

c.4734delC

Surrounding Variants

2 papers

NM_000350.3

p.F1579fs

c.4735_4736fs

1 paper

NM_000350.3

p.G1578fs

c.4732_4733fs

1 paper

NM_000350.3

p.F1579fs

c.4735_4736fs

2 papers

NM_000350.3

p.V1577_G1578delFs

c.4731_4732delCA

1 paper

NM_000350.3

p.V1577del1

c.4729_4730delAAC

3 papers

NM_000350.3

p.G1578_F1579delFs

c.4734_4737del4

8 papers

NM_000350.3

p.G1578R

c.4732G>C

9 papers

NM_000350.3

p.G1578R

c.4732G>A

1 paper

NM_000350.3

p.G1578fs

c.4732_4733fs

2 papers

NM_000350.3

p.L1580fs

c.4738_4739fs

8 papers

NM_000350.3

p.L1580*

c.4739T>G

22 papers

NM_000350.3

p.L1580S

c.4739T>C