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.R621K

c.1862G>A

Surrounding Variants

2 papers

NM_000350.3

p.R621T

c.1862G>C

1 paper

NM_000350.3

p.R621G

c.1861A>G

1 paper

NM_000350.3

p.Q617_T620delFs

c.1851_1860del10

1 paper

NM_000350.3

p.G607_T620del14

c.1819_1859del42

2 papers

NM_000350.3

p.S622fs

c.1864_1865fs

1 paper

NM_000350.3

p.T620T

c.1860A>G

2 papers

NM_000350.3

p.S622N

c.1865G>A

1 paper

NM_000350.3

p.T620I

c.1859C>T

1 paper

NM_000350.3

p.S622fs

c.1864_1865fs

3 papers

NM_000350.3

p.S622delFs

c.1865delC

1 paper

NM_000350.3

p.I619delFs

c.1856_1857delGA

1 paper

NM_000350.3

p.G618_I619del2

c.1852_1856del6