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.Y610*

c.1830T>G

Surrounding Variants

4 papers

NM_000350.3

p.Y610*

c.1830T>A

7 papers

NM_000350.3

p.L611P

c.1832T>C

1 paper

NM_000350.3

p.A609delFs

c.1827delG

2 papers

NM_000350.3

p.Q612fs

c.1834_1835fs

10 papers

NM_000350.3

p.Q612*

c.1834C>T

4 papers

NM_000350.3

p.G607_L611del5

c.1819_1832del15

1 paper

NM_000350.3

p.E599_L611del0

c.1795_1833del39

1 paper

NM_000350.3

p.F608insFs

c.1824dupT

7 papers

NM_000350.3

p.F608L

c.1824T>G

7 papers

NM_000350.3

p.F608L

c.1824T>A

2 papers

NM_000350.3

p.Q612delFs

c.1835delT

2 papers

NM_000350.3

p.F608Y

c.1823T>A