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.L200P

c.599T>C

Surrounding Variants

1 paper

NM_000350.3

p.D197_A199delFs

c.591_597del7

3 papers

NM_000350.3

p.L200L

c.598C>T

1 paper

NM_000350.3

p.L200V

c.598C>G

2 papers

NM_000350.3

p.A199V

c.596C>T

1 paper

NM_000350.3

p.A199E

c.596C>A

1 paper

NM_000350.3

p.K201N

c.603G>T

1 paper

NM_000350.3

p.K201N

c.603G>C

1 paper

NM_000350.3

p.D202fs

c.604_605fs

1 paper

NM_000350.3

p.L198P

c.593T>C

1 paper

NM_000350.3

p.L198Q

c.593T>A

1 paper

NM_000350.3

p.A199_K201insFs

c.597_603dup7

2 papers

NM_000350.3

p.D202delFs

c.604delC