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.E286_F287Splc

c.858+2T>A

Surrounding Variants

1 paper

NM_000350.3

p.E286_F287Splc

c.858+2T>G

2 papers

NM_000350.3

p.E286_F287Splc

c.858+2T>C

8 papers

NM_000350.3

p.E286_F287Splc

c.858+1G>T

1 paper

NM_000350.3

p.E286_F287Splc

c.858+1G>C

2 papers

NM_000350.3

p.E286_F287Splc

c.858+1G>A

3 papers

NM_000350.3

p.I284_E286delFs

c.850_857del8

1 paper

NM_000350.3

p.E286_F287Splc

c.858+4A>G

1 paper

NM_000350.3

p.E286*

c.856G>T

2 papers

NM_000350.3

p.E286Q

c.856G>C

1 paper

NM_000350.3

p.E286_F287Splc

c.858+8G>T

1 paper

NM_000350.3

p.E286_F287Splc

c.858+8G>A

7 papers

NM_000350.3

p.Q285L

c.854A>T