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.I1530F

c.4588A>T

Surrounding Variants

1 paper

NM_000350.3

p.S1531A

c.4591T>G

2 papers

NM_000350.3

p.S1531F

c.4592C>T

4 papers

NM_000350.3

p.R1528insFs

c.4582dupA

6 papers

NM_000350.3

p.D1532Y

c.4594G>T

38 papers

NM_000350.3

p.D1532N

c.4594G>A

1 paper

NM_000350.3

p.R1528fs

c.4582_4583fs

1 paper

NM_000350.3

p.R1528W

c.4582A>T

1 paper

NM_000350.3

p.D1527_R1528insFs

c.4581_4582insA

2 papers

NM_000350.3

p.D1532E

c.4596C>G

2 papers

NM_000350.3

p.D1532E

c.4596C>A

4 papers

NM_000350.3

p.F1533S

c.4598T>C

1 paper

NM_000350.3

p.L1525_T1526insFs

c.4574_4577dup4