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

1 paper

NM_000350.3

p.A1075V

c.3224C>T

Surrounding Variants

6 papers

NM_000350.3

p.A1075D

c.3224C>A

2 papers

NM_000350.3

p.K1069_A1075del7

c.3205_3224del21

1 paper

NM_000350.3

p.I1074V

c.3220A>G

3 papers

NM_000350.3

p.I1074L

c.3220A>C

1 paper

NM_000350.3

p.A1073insFs

c.3219dupC

1 paper

NM_000350.3

p.V1072V

c.3216T>C

1 paper

NM_000350.3

p.G1078fs

c.3232_3233fs

4 papers

NM_000350.3

p.V1072A

c.3215T>C

9 papers

NM_000350.3

p.G1078E

c.3233G>A

1 paper

NM_000350.3

p.G1078delFs

c.3233delC

10 papers

NM_000350.3

p.S1071fs

c.3211_3212fs

1 paper

NM_000350.3

p.S1071S

c.3213G>A