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.S1071P

c.3211T>C

Surrounding Variants

30 papers

NM_000350.3

p.S1071insFs

c.3211_3212insGT

30 papers

NM_000350.3

p.S1071fs

c.3211_3212fs

1 paper

NM_000350.3

p.L1070_S1071insFs

c.3210_3211insT

1 paper

NM_000350.3

p.L1070_S1071insFs

c.3210_3211insTG

1 paper

NM_000350.3

p.L1070L

c.3210G>C

19 papers

NM_000350.3

p.S1071L

c.3212C>T

39 papers

NM_000350.3

p.L1070_S1071insFs

c.3210_3211dupGT

6 papers

NM_000350.3

p.S1071*

c.3212C>A

1 paper

NM_000350.3

p.L1070insFs

c.3209_3210insGT

10 papers

NM_000350.3

p.S1071fs

c.3211_3212fs

1 paper

NM_000350.3

p.S1071S

c.3213G>A

1 paper

NM_000350.3

p.L1070fs

c.3208_3209fs