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

2 papers

NM_000350.3

p.V2236fs

c.6706_6707fs

Surrounding Variants

1 paper

NM_000350.3

p.S2235_V2236insFs

c.6705_6706insC

4 papers

NM_000350.3

p.S2235*

c.6704C>G

2 papers

NM_000350.3

p.V2236fs

c.6706_6707fs

3 papers

NM_000350.3

p.S2235*

c.6704C>A

1 paper

NM_000350.3

p.S2235P

c.6703T>C

5 papers

NM_000350.3

p.T2237P

c.6709A>C

6 papers

NM_000350.3

p.T2237insFs

c.6709_6710insG

2 papers

NM_000350.3

p.T2237fs

c.6709_6710fs

1 paper

NM_000350.3

p.T2237insFs

c.6710_6711insG

5 papers

NM_000350.3

p.T2237insFs

c.6710_6711insA

2 papers

NM_000350.3

p.T2237fs

c.6709_6710fs

2 papers

NM_000350.3

p.E2233del1

c.6697_6698delCTC