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.D175Fs

c.523delinsTGGFs

Surrounding Variants

1 paper

NM_000350.3

p.D175H

c.523G>C

1 paper

NM_000350.3

p.S174_D175ins1

c.522_523insGTT

1 paper

NM_000350.3

p.S174F

c.521C>T

1 paper

NM_000350.3

p.S174insFs

c.520_521ins4

1 paper

NM_000350.3

p.S174ins1

c.520_521insGTT

1 paper

NM_000350.3

p.S174insFs

c.520_521insGT

1 paper

NM_000350.3

p.L173L

c.519G>T

1 paper

NM_000350.3

p.L173_S174insFs

c.519_520insT

1 paper

NM_000350.3

p.L173fs

c.517_518fs

2 papers

NM_000350.3

p.L173insFs

c.517dupC

1 paper

NM_000350.3

p.L173Q

c.518T>A

2 papers

NM_000350.3

p.L173delFs

c.517delG