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.A1255_D1256insFs

c.3765_3766dupTG

Surrounding Variants

1 paper

NM_000350.3

p.D1256insFs

c.3766_3767insTG

1 paper

NM_000350.3

p.D1256fs

c.3766_3767fs

1 paper

NM_000350.3

p.D1256fs

c.3766_3767fs

2 papers

NM_000350.3

p.L1257fs

c.3769_3770fs

3 papers

NM_000350.3

p.D1256insFs

c.3767_3768dupAC

1 paper

NM_000350.3

p.L1257I

c.3769C>A

1 paper

NM_000350.3

p.L1257fs

c.3769_3770fs

1 paper

NM_000350.3

p.L1254del1

c.3760_3761delCAG

1 paper

NM_000350.3

p.G1258D

c.3773G>A

3 papers

NM_000350.3

p.T1253T

c.3759G>A

1 paper

NM_000350.3

p.A1255_G1258del4

c.3763_3773del12

1 paper

NM_000350.3

p.L1259delFs

c.3775delG