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.R1068S

c.3204A>C

Surrounding Variants

1 paper

NM_000350.3

p.R1068S

c.3204A>T

3 papers

NM_000350.3

p.K1069E

c.3205A>G

1 paper

NM_000350.3

p.K1069Q

c.3205A>C

1 paper

NM_000350.3

p.K1069R

c.3206A>G

1 paper

NM_000350.3

p.K1069fs

c.3205_3206fs

2 papers

NM_000350.3

p.K1069insFs

c.3205_3206dupAA

1 paper

NM_000350.3

p.L1070fs

c.3208_3209fs

3 papers

NM_000350.3

p.L1070insFs

c.3208_3209insGT

1 paper

NM_000350.3

p.L1070insFs

c.3208_3209insTG

1 paper

NM_000350.3

p.L1070insFs

c.3209_3210insGT

1 paper

NM_000350.3

p.L1070_S1071insFs

c.3210_3211insT

1 paper

NM_000350.3

p.L1070_S1071insFs

c.3210_3211insTG