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

2 papers

NM_000350.3

p.P1567L

c.4700C>T

Surrounding Variants

3 papers

NM_000350.3

p.L1566F

c.4696C>T

2 papers

NM_000350.3

p.V1569fs

c.4705_4706fs

1 paper

NM_000350.3

p.K1565R

c.4694A>G

2 papers

NM_000350.3

p.V1569delFs

c.4706delA

1 paper

NM_000350.3

p.G1564E

c.4691G>A

2 papers

NM_000350.3

p.P1570L

c.4709C>T

2 papers

NM_000350.3

p.G1563delFs

c.4689delT

1 paper

NM_000350.3

p.P1570fs

c.4708_4709fs

2 papers

NM_000350.3

p.G1564fs

c.4690_4691fs

3 papers

NM_000350.3

p.I1571fs

c.4711_4712fs

5 papers

NM_000350.3

p.P1570delFs

c.4710delG

3 papers

NM_000350.3

p.I1571N

c.4712T>A