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.Y245fs

c.733_734fs

Surrounding Variants

4 papers

NM_000350.3

p.Y245H

c.733T>C

1 paper

NM_000350.3

p.T243_L244delFs

c.728_732del5

3 papers

NM_000350.3

p.L244fs

c.730_731fs

3 papers

NM_000350.3

p.L244delFs

c.730_731delAG

1 paper

NM_000350.3

p.Y245F

c.734A>T

1 paper

NM_000350.3

p.L244_Y245delFs

c.732_733delAC

30 papers

NM_000350.3

p.Y245*

c.735T>G

8 papers

NM_000350.3

p.L244P

c.731T>C

29 papers

NM_000350.3

p.Y245*

c.735T>A

3 papers

NM_000350.3

p.A246T

c.736G>A

1 paper

NM_000350.3

p.L244fs

c.730_731fs

2 papers

NM_000350.3

p.T243insFs

c.727_728dupAC