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.Y856N

c.2566T>A

Surrounding Variants

32 papers

NM_000350.3

p.W855*

c.2565G>A

1 paper

NM_000350.3

p.Y856S

c.2567A>C

38 papers

NM_000350.3

p.W855*

c.2564G>A

9 papers

NM_000350.3

p.Y856*

c.2568C>G

9 papers

NM_000350.3

p.Y856*

c.2568C>A

8 papers

NM_000350.3

p.L857P

c.2570T>C

1 paper

NM_000350.3

p.L857fs

c.2569_2570fs

2 papers

NM_000350.3

p.A854insFs

c.2560_2561insG

1 paper

NM_000350.3

p.A854fs

c.2560_2561fs

2 papers

NM_000350.3

p.D858fs

c.2572_2573fs

3 papers

NM_000350.3

p.A854S

c.2560G>T

2 papers

NM_000350.3

p.D858Y

c.2572G>T