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.C2066fs

c.6196_6197fs

Surrounding Variants

3 papers

NM_000350.3

p.C2066delFs

c.6196delA

2 papers

NM_000350.3

p.D2065V

c.6194A>T

4 papers

NM_000350.3

p.D2065H

c.6193G>C

6 papers

NM_000350.3

p.A2064V

c.6191C>T

1 paper

NM_000350.3

p.A2064P

c.6190G>C

18 papers

NM_000350.3

p.A2064T

c.6190G>A

1 paper

NM_000350.3

p.Y2063*

c.6189C>G

1 paper

NM_000350.3

p.Y2063*

c.6189C>A

1 paper

NM_000350.3

p.V2062_Y2063delFs

c.6184_6188del5

5 papers

NM_000350.3

p.V2062_Y2063delFs

c.6184_6187del4

3 papers

NM_000350.3

p.Y2063_A2064insA

c.6187_6191ins3

1 paper

NM_000350.3

p.V2062fs

c.6184_6185fs