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

5 papers

NM_000350.3

p.Y97C

c.290A>G

Surrounding Variants

1 paper

NM_000350.3

p.Y97insFs

c.289_290insA

1 paper

NM_000350.3

p.Y97*

c.291T>G

1 paper

NM_000350.3

p.Y97*

c.291T>A

19 papers

NM_000350.3

p.N96K

c.288C>G

2 papers

NM_000350.3

p.N96fs

c.286_287fs

18 papers

NM_000350.3

p.N96K

c.288C>A

8 papers

NM_000350.3

p.N96delFs

c.287delT

1 paper

NM_000350.3

p.N98D

c.292A>G

7 papers

NM_000350.3

p.N98S

c.293A>G

4 papers

NM_000350.3

p.N98K

c.294C>G

5 papers

NM_000350.3

p.N98K

c.294C>A

4 papers

NM_000350.3

p.N96fs

c.286_287fs