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

3 papers

NM_000350.3

p.G766insFs

c.2297_2298insG

Surrounding Variants

5 papers

NM_000350.3

p.G766V

c.2297G>T

6 papers

NM_000350.3

p.G766D

c.2297G>A

4 papers

NM_000350.3

p.V767fs

c.2299_2300fs

55 papers

NM_000350.3

p.V767D

c.2300T>A

16 papers

NM_000350.3

p.V767delFs

c.2299delC

9 papers

NM_000350.3

p.S765R

c.2295T>G

9 papers

NM_000350.3

p.S765R

c.2295T>A

2 papers

NM_000350.3

p.C764_S765Fs

c.2292_2295delinsAGGFs

2 papers

NM_000350.3

p.S765T

c.2294G>C

10 papers

NM_000350.3

p.S765N

c.2294G>A

1 paper

NM_000350.3

p.S765fs

c.2293_2294fs

9 papers

NM_000350.3

p.S765R

c.2293A>C