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.P1603R

c.4808C>G

Surrounding Variants

1 paper

NM_000350.3

p.D1604fs

c.4810_4811fs

1 paper

NM_000350.3

p.P1603delFs

c.4809delA

2 papers

NM_000350.3

p.I1602delFs

c.4804delT

1 paper

NM_000350.3

p.I1602fs

c.4804_4805fs

1 paper

NM_000350.3

p.S1599fs

c.4795_4796fs

1 paper

NM_000350.3

p.S1599insFs

c.4795_4796ins5

1 paper

NM_000350.3

p.A1598V

c.4793C>T

4 papers

NM_000350.3

p.A1598G

c.4793C>G

85 papers

NM_000350.3

p.A1598D

c.4793C>A

1 paper

NM_000350.3

p.H1608R

c.4823A>G

1 paper

NM_000350.3

p.R1596S

c.4788A>T

1 paper

NM_000350.3

p.R1596S

c.4788A>C