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

7 papers

NM_000350.3

p.F608L

c.1824T>A

Surrounding Variants

7 papers

NM_000350.3

p.F608L

c.1824T>G

2 papers

NM_000350.3

p.F608Y

c.1823T>A

1 paper

NM_000350.3

p.F608insFs

c.1824dupT

7 papers

NM_000350.3

p.F608L

c.1822T>C

34 papers

NM_000350.3

p.F608I

c.1822T>A

1 paper

NM_000350.3

p.A609delFs

c.1827delG

1 paper

NM_000350.3

p.G607V

c.1820G>T

1 paper

NM_000350.3

p.G607E

c.1820G>A

5 papers

NM_000350.3

p.G607W

c.1819G>T

42 papers

NM_000350.3

p.G607R

c.1819G>C

45 papers

NM_000350.3

p.G607R

c.1819G>A

4 papers

NM_000350.3

p.Y610*

c.1830T>G