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

4 papers

NM_000350.3

p.K1033fs

c.3097_3098fs

Surrounding Variants

1 paper

NM_000350.3

p.K1033*

c.3097A>T

1 paper

NM_000350.3

p.K1033E

c.3097A>G

2 papers

NM_000350.3

p.G1032G

c.3096A>T

1 paper

NM_000350.3

p.G1032G

c.3096A>G

1 paper

NM_000350.3

p.G1032fs

c.3094_3095fs

5 papers

NM_000350.3

p.K1033delFs

c.3098delT

1 paper

NM_000350.3

p.G1032*

c.3094G>T

1 paper

NM_000350.3

p.G1032R

c.3094G>C

1 paper

NM_000350.3

p.G1032R

c.3094G>A

5 papers

NM_000350.3

p.K1031delFs

c.3092delT

1 paper

NM_000350.3

p.K1031delFs

c.3092_3093delTT

2 papers

NM_000350.3

p.G1032fs

c.3094_3095fs