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.A1244T

c.3730G>A

Surrounding Variants

1 paper

NM_000350.3

p.Y1243*

c.3729T>G

1 paper

NM_000350.3

p.Y1243*

c.3729T>A

2 papers

NM_000350.3

p.Y1243D

c.3727T>G

3 papers

NM_000350.3

p.S1245N

c.3734G>A

1 paper

NM_000350.3

p.A1242T

c.3724G>A

4 papers

NM_000350.3

p.L1246V

c.3736C>G

1 paper

NM_000350.3

p.R1241R

c.3721A>C

1 paper

NM_000350.3

p.R1248K

c.3743G>A

1 paper

NM_000350.3

p.R1248S

c.3744A>T

1 paper

NM_000350.3

p.R1248S

c.3744A>C

1 paper

NM_000350.3

p.E1249*

c.3745G>T

1 paper

NM_000350.3

p.K1239insFs

c.3715_3716insGG