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

230 papers

NM_000350.3

p.N1868I

c.5603A>T

Surrounding Variants

6 papers

NM_000350.3

p.P1869L

c.5606C>T

1 paper

NM_000350.3

p.P1869P

c.5607G>A

1 paper

NM_000350.3

p.F1870L

c.5608T>C

1 paper

NM_000350.3

p.F1870L

c.5610C>G

1 paper

NM_000350.3

p.F1870L

c.5610C>A

1 paper

NM_000350.3

p.H1871Y

c.5611C>T

1 paper

NM_000350.3

p.H1865insFs

c.5594dupA

5 papers

NM_000350.3

p.H1865Y

c.5593C>T

5 papers

NM_000350.3

p.W1872*

c.5615G>A

5 papers

NM_000350.3

p.W1872*

c.5616G>A

1 paper

NM_000350.3

p.D1873V

c.5618A>T

1 paper

NM_000350.3

p.D1873G

c.5618A>G