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.E599fs

c.1795_1796fs

Surrounding Variants

1 paper

NM_000350.3

p.E599delFs

c.1795delC

4 papers

NM_000350.3

p.V598G

c.1793T>G

6 papers

NM_000350.3

p.D600Y

c.1798G>T

7 papers

NM_000350.3

p.V598M

c.1792G>A

1 paper

NM_000350.3

p.D600N

c.1798G>A

4 papers

NM_000350.3

p.D600E

c.1800T>G

4 papers

NM_000350.3

p.D600E

c.1800T>A

1 paper

NM_000350.3

p.E599_D600delFs

c.1797_1798delCT

1 paper

NM_000350.3

p.P597L

c.1790C>T

9 papers

NM_000350.3

p.P597S

c.1789C>T

1 paper

NM_000350.3

p.D596V

c.1787A>T

1 paper

NM_000350.3

p.D596Y

c.1786G>T