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.L661_A662insFs

c.1983_1984insG

Surrounding Variants

2 papers

NM_000350.3

p.A662fs

c.1984_1985fs

2 papers

NM_000350.3

p.A662fs

c.1984_1985fs

1 paper

NM_000350.3

p.L661insFs

c.1982_1983insG

6 papers

NM_000350.3

p.L661R

c.1982T>G

1 paper

NM_000350.3

p.L661P

c.1982T>C

1 paper

NM_000350.3

p.L661Q

c.1982T>A

21 papers

NM_000350.3

p.W663*

c.1988G>A

1 paper

NM_000350.3

p.W663delFs

c.1987delA

1 paper

NM_000350.3

p.W663C

c.1989G>T

1 paper

NM_000350.3

p.W663C

c.1989G>C

19 papers

NM_000350.3

p.W663*

c.1989G>A

1 paper

NM_000350.3

p.L661L

c.1981C>T