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.S263_R264delFs

c.787_790del4

Surrounding Variants

3 papers

NM_000350.3

p.R264H

c.791G>A

1 paper

NM_000350.3

p.S263delFs

c.789delG

1 paper

NM_000350.3

p.R264C

c.790C>T

1 paper

NM_000350.3

p.S263C

c.787A>T

1 paper

NM_000350.3

p.D262G

c.785A>G

1 paper

NM_000350.3

p.Q266P

c.797A>C

1 paper

NM_000350.3

p.L261_D262del1

c.782_784delCTA

1 paper

NM_000350.3

p.D262Y

c.784G>T

2 papers

NM_000350.3

p.D262N

c.784G>A

2 papers

NM_000350.3

p.Q266H

c.798A>T

2 papers

NM_000350.3

p.T259_Q266del8

c.775_797del24

1 paper

NM_000350.3

p.I268fs

c.802_803fs