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.S561fs

c.1681_1682fs

Surrounding Variants

1 paper

NM_000350.3

p.T560delFs

c.1680delG

1 paper

NM_000350.3

p.S561delFs

c.1681delT

1 paper

NM_000350.3

p.W559C

c.1677G>T

1 paper

NM_000350.3

p.W559C

c.1677G>C

1 paper

NM_000350.3

p.W559*

c.1677G>A

1 paper

NM_000350.3

p.S562Y

c.1685C>A

1 paper

NM_000350.3

p.W559*

c.1676G>A

1 paper

NM_000350.3

p.P558delFs

c.1674delG

2 papers

NM_000350.3

p.S561_S562delFs

c.1682_1686del5

1 paper

NM_000350.3

p.L563Q

c.1688T>A

1 paper

NM_000350.3

p.Y557*

c.1671T>G

1 paper

NM_000350.3

p.Y557*

c.1671T>A