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.D443Y

c.1327G>T

Surrounding Variants

2 papers

NM_000350.3

p.D443N

c.1327G>A

1 paper

NM_000350.3

p.F442delFs

c.1326delA

1 paper

NM_000350.3

p.F441_F442delFs

c.1323_1326del4

1 paper

NM_000350.3

p.F442S

c.1325T>C

2 papers

NM_000350.3

p.F442I

c.1324T>A

1 paper

NM_000350.3

p.N444Y

c.1330A>T

1 paper

NM_000350.3

p.N444S

c.1331A>G

1 paper

NM_000350.3

p.F441V

c.1321T>G

1 paper

NM_000350.3

p.S445C

c.1333A>T

7 papers

NM_000350.3

p.S445R

c.1333A>C

1 paper

NM_000350.3

p.S445N

c.1334G>A

1 paper

NM_000350.3

p.Y440delFs

c.1319delT