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

7 papers

NM_000350.3

p.G863fs

c.2587_2588fs

Surrounding Variants

2 papers

NM_000350.3

p.G863V

c.2588G>T

306 papers

NM_000350.3

p.G863A

c.2588G>C

10 papers

NM_000350.3

p.G863E

c.2588G>A

2 papers

NM_000350.3

p.G863Splc

c.2588-1G>T

1 paper

NM_000350.3

p.G863Splc

c.2588-1G>C

1 paper

NM_000350.3

p.G863Splc

c.2588-1G>A

1 paper

NM_000350.3

p.D864N

c.2590G>A

1 paper

NM_000350.3

p.G863Splc

c.2588-2A>T

1 paper

NM_000350.3

p.G863Splc

c.2588-2A>G

1 paper

NM_000350.3

p.G863Splc

c.2588-2A>C

3 papers

NM_000350.3

p.G863_D864del1

c.2588_2590delCTC

3 papers

NM_000350.3

p.Y865fs

c.2593_2594fs