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

4 papers

NM_000350.3

p.N247_V248delFs

c.741_744del4

Surrounding Variants

1 paper

NM_000350.3

p.D249Y

c.745G>T

1 paper

NM_000350.3

p.D249N

c.745G>A

1 paper

NM_000350.3

p.V248delFs

c.743delA

1 paper

NM_000350.3

p.Y245_V248del0

c.735_743del9

9 papers

NM_000350.3

p.D249G

c.746A>G

8 papers

NM_000350.3

p.F250_F251ins4

c.748_752ins12

1 paper

NM_000350.3

p.F250V

c.748T>G

1 paper

NM_000350.3

p.F250fs

c.748_749fs

2 papers

NM_000350.3

p.N247N

c.741C>T

1 paper

NM_000350.3

p.N247K

c.741C>G

1 paper

NM_000350.3

p.N247K

c.741C>A

1 paper

NM_000350.3

p.F250fs

c.748_749fs