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.L1580fs

c.4738_4739fs

Surrounding Variants

3 papers

NM_000350.3

p.G1578_F1579delFs

c.4734_4737del4

1 paper

NM_000350.3

p.F1579fs

c.4735_4736fs

8 papers

NM_000350.3

p.L1580*

c.4739T>G

22 papers

NM_000350.3

p.L1580S

c.4739T>C

8 papers

NM_000350.3

p.L1580*

c.4739T>A

2 papers

NM_000350.3

p.F1579_L1580delins

c.4735_4739delinsCC

3 papers

NM_000350.3

p.G1578_L1580Fs

c.4734_4739delinsCCFs

4 papers

NM_000350.3

p.L1580fs

c.4738_4739fs

18 papers

NM_000350.3

p.L1580delFs

c.4739delA

3 papers

NM_000350.3

p.L1580delFs

c.4738_4739delAA

2 papers

NM_000350.3

p.F1579_L1580delFs

c.4736_4739del4

1 paper

NM_000350.3

p.G1578_L1580del0

c.4734_4739del6