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

3 papers

NM_000350.3

p.L857delFs

c.2571delA

Surrounding Variants

2 papers

NM_000350.3

p.D858fs

c.2572_2573fs

2 papers

NM_000350.3

p.D858Y

c.2572G>T

1 paper

NM_000350.3

p.D858H

c.2572G>C

1 paper

NM_000350.3

p.Y850_L857del8

c.2548_2570del24

1 paper

NM_000350.3

p.L857fs

c.2569_2570fs

1 paper

NM_000350.3

p.D858G

c.2573A>G

2 papers

NM_000350.3

p.D858insFs

c.2572dupG

4 papers

NM_000350.3

p.W855_D858delFs

c.2565_2572del8

8 papers

NM_000350.3

p.L857P

c.2570T>C

1 paper

NM_000350.3

p.Q859fs

c.2575_2576fs

1 paper

NM_000350.3

p.Q859*

c.2575C>T

1 paper

NM_000350.3

p.Q859E

c.2575C>G