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.P2259T

c.6775C>A

Surrounding Variants

2 papers

NM_000350.3

p.P2259L

c.6776C>T

44 papers

NM_000350.3

p.S2255I

c.6764G>T

3 papers

NM_000350.3

p.R2263*

c.6787C>T

2 papers

NM_000350.3

p.R2263L

c.6788G>T

1 paper

NM_000350.3

p.R2263Q

c.6788G>A

1 paper

NM_000350.3

p.V2244_E2254del0

c.6731_6760del30

1 paper

NM_000350.3

p.T2253A

c.6757A>G

2 papers

NM_000350.3

p.T2253P

c.6757A>C

1 paper

NM_000350.3

p.G2266E

c.6797G>A

6 papers

NM_000350.3

p.K2250delFs

c.6748delT

1 paper

NM_000350.3

p.K2250fs

c.6748_6749fs

1 paper

NM_000350.3

p.K2250fs

c.6748_6749fs