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

2 papers

NM_000350.3

p.A407V

c.1220C>T

Surrounding Variants

1 paper

NM_000350.3

p.A407S

c.1219G>T

54 papers

NM_000350.3

p.R408*

c.1222C>T

1 paper

NM_000350.3

p.R408Q

c.1223G>A

2 papers

NM_000350.3

p.A406V

c.1217C>T

1 paper

NM_000350.3

p.A406P

c.1216G>C

1 paper

NM_000350.3

p.P405delFs

c.1214delG

1 paper

NM_000350.3

p.R409fs

c.1225_1226fs

3 papers

NM_000350.3

p.R409delFs

c.1225delT

1 paper

NM_000350.3

p.R409fs

c.1225_1226fs

2 papers

NM_000350.3

p.P405S

c.1213C>T

1 paper

NM_000350.3

p.S404fs

c.1210_1211fs

6 papers

NM_000350.3

p.I410T

c.1229T>C