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

43 papers

NM_000350.3

p.R24H

c.71G>A

Surrounding Variants

1 paper

NM_000350.3

p.R24L

c.71G>T

14 papers

NM_000350.3

p.R24C

c.70C>T

1 paper

NM_000350.3

p.R24insFs

c.71dupG

1 paper

NM_000350.3

p.R24S

c.70C>A

1 paper

NM_000350.3

p.R24fs

c.70_71fs

2 papers

NM_000350.3

p.R24insFs

c.72dupC

1 paper

NM_000350.3

p.I23M

c.69T>G

1 paper

NM_000350.3

p.I23N

c.68T>A

6 papers

NM_000350.3

p.I23fs

c.67_68fs

1 paper

NM_000350.3

p.I23F

c.67A>T

1 paper

NM_000350.3

p.I23V

c.67A>G

6 papers

NM_000350.3

p.K22_I23Splc

c.67-1G>C