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.L1430_D1432delFs

c.4288_4294del7

Surrounding Variants

1 paper

NM_000350.3

p.D1432E

c.4296C>G

73 papers

NM_000350.3

p.V1433I

c.4297G>A

2 papers

NM_000350.3

p.L1430delFs

c.4290delA

2 papers

NM_000350.3

p.A1431fs

c.4291_4292fs

1 paper

NM_000350.3

p.L1430fs

c.4288_4289fs

4 papers

NM_000350.3

p.L1430P

c.4289T>C

2 papers

NM_000350.3

p.L1430fs

c.4288_4289fs

2 papers

NM_000350.3

p.V1429A

c.4286T>C

30 papers

NM_000350.3

p.T1428M

c.4283C>T

6 papers

NM_000350.3

p.N1436I

c.4307A>T

1 paper

NM_000350.3

p.K1437*

c.4309A>T

1 paper

NM_000350.3

p.P1438A

c.4312C>G