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.H566Q

c.1698C>G

Surrounding Variants

1 paper

NM_000350.3

p.H566Q

c.1698C>A

9 papers

NM_000350.3

p.V567M

c.1699G>A

1 paper

NM_000350.3

p.H566delFs

c.1696delG

1 paper

NM_000350.3

p.H566fs

c.1696_1697fs

1 paper

NM_000350.3

p.P565L

c.1694C>T

1 paper

NM_000350.3

p.P565H

c.1694C>A

2 papers

NM_000350.3

p.K568E

c.1702A>G

3 papers

NM_000350.3

p.P564P

c.1692A>G

1 paper

NM_000350.3

p.Y569H

c.1705T>C

2 papers

NM_000350.3

p.Y569C

c.1706A>G

1 paper

NM_000350.3

p.Y569S

c.1706A>C

1 paper

NM_000350.3

p.L563Q

c.1688T>A