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.V77_N78insFs

c.231_232ins5

Surrounding Variants

1 paper

NM_000350.3

p.N78K

c.234C>G

1 paper

NM_000350.3

p.N78insFs

c.233_234ins5

1 paper

NM_000350.3

p.N78K

c.234C>A

2 papers

NM_000350.3

p.N78S

c.233A>G

1 paper

NM_000350.3

p.N79D

c.235A>G

1 paper

NM_000350.3

p.N78fs

c.232_233fs

1 paper

NM_000350.3

p.N79insFs

c.236_237insG

1 paper

NM_000350.3

p.N79K

c.237T>G

2 papers

NM_000350.3

p.N79N

c.237T>C

1 paper

NM_000350.3

p.N79K

c.237T>A

1 paper

NM_000350.3

p.N79delFs

c.235_236delTT

1 paper

NM_000350.3

p.V77V

c.231G>C