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

3 papers

NM_000350.3

p.N688I

c.2063A>T

Surrounding Variants

1 paper

NM_000350.3

p.N688fs

c.2062_2063fs

10 papers

NM_000350.3

p.N688insFs

c.2063dupA

7 papers

NM_000350.3

p.N688fs

c.2062_2063fs

1 paper

NM_000350.3

p.N688insFs

c.2064dupT

2 papers

NM_000350.3

p.Q689K

c.2065C>A

1 paper

NM_000350.3

p.G690fs

c.2068_2069fs

1 paper

NM_000350.3

p.G690S

c.2068G>A

7 papers

NM_000350.3

p.L686S

c.2057T>C

4 papers

NM_000350.3

p.L686*

c.2057T>A

12 papers

NM_000350.3

p.G690V

c.2069G>T

3 papers

NM_000350.3

p.G690D

c.2069G>A

2 papers

NM_000350.3

p.G690fs

c.2068_2069fs