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.V551V

c.1653G>A

Surrounding Variants

1 paper

NM_000350.3

p.V551A

c.1652T>C

1 paper

NM_000350.3

p.V551delFs

c.1651delC

49 papers

NM_000350.3

p.V552I

c.1654G>A

1 paper

NM_000350.3

p.G550delFs

c.1649delC

4 papers

NM_000350.3

p.F553L

c.1657T>C

1 paper

NM_000350.3

p.G550V

c.1649G>T

6 papers

NM_000350.3

p.G550*

c.1648G>T

39 papers

NM_000350.3

p.G550R

c.1648G>C

42 papers

NM_000350.3

p.G550R

c.1648G>A

1 paper

NM_000350.3

p.A549delFs

c.1646delG

1 paper

NM_000350.3

p.G550fs

c.1648_1649fs

4 papers

NM_000350.3

p.F553L

c.1659C>G