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

4 papers

NM_000350.3

p.A1219P

c.3655G>C

Surrounding Variants

2 papers

NM_000350.3

p.P1217R

c.3650C>G

1 paper

NM_000350.3

p.V1216fs

c.3646_3647fs

1 paper

NM_000350.3

p.V1216delFs

c.3646delC

1 paper

NM_000350.3

p.V1222fs

c.3664_3665fs

2 papers

NM_000350.3

p.H1214_H1215del1

c.3642_3644delTGG

1 paper

NM_000350.3

p.V1222delFs

c.3665_3666delCA

3 papers

NM_000350.3

p.E1223fs

c.3667_3668fs

3 papers

NM_000350.3

p.E1223insFs

c.3667dupG

3 papers

NM_000350.3

p.C1224G

c.3670T>G

1 paper

NM_000350.3

p.V1222_E1223del0

c.3664_3669del6

1 paper

NM_000350.3

p.L1213P

c.3638T>C

1 paper

NM_000350.3

p.L1213F

c.3637C>T