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

10 papers

NM_000350.3

p.G1844C

c.5530G>T

Surrounding Variants

4 papers

NM_000350.3

p.G1844D

c.5531G>A

1 paper

NM_000350.3

p.G1842_G1844delFs

c.5526_5530del5

1 paper

NM_000350.3

p.R1843L

c.5528G>T

1 paper

NM_000350.3

p.R1843Q

c.5528G>A

13 papers

NM_000350.3

p.R1843W

c.5527C>T

4 papers

NM_000350.3

p.R1843G

c.5527C>G

1 paper

NM_000350.3

p.G1844del1

c.5530_5531delGCC

4 papers

NM_000350.3

p.R1843_G1844del2

c.5527_5531del6

1 paper

NM_000350.3

p.G1842fs

c.5524_5525fs

1 paper

NM_000350.3

p.G1842A

c.5525G>C

16 papers

NM_000350.3

p.I1846T

c.5537T>C

2 papers

NM_000350.3

p.I1846N

c.5537T>A