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

5 papers

NM_000350.3

p.F642L

c.1926C>G

Surrounding Variants

5 papers

NM_000350.3

p.F642L

c.1926C>A

18 papers

NM_000350.3

p.V643M

c.1927G>A

36 papers

NM_000350.3

p.V643G

c.1928T>G

5 papers

NM_000350.3

p.F642L

c.1924T>C

8 papers

NM_000350.3

p.F642I

c.1924T>A

1 paper

NM_000350.3

p.C641insFs

c.1922dupG

1 paper

NM_000350.3

p.C641*

c.1923C>A

1 paper

NM_000350.3

p.M637_C641delFs

c.1909_1922del14

16 papers

NM_000350.3

p.C641S

c.1922G>C

2 papers

NM_000350.3

p.C641G

c.1921T>G

3 papers

NM_000350.3

p.C641R

c.1921T>C

14 papers

NM_000350.3

p.C641S

c.1921T>A