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.N965D

c.2893A>G

Surrounding Variants

5 papers

NM_000350.3

p.N965Y

c.2893A>T

1 paper

NM_000350.3

p.H964delFs

c.2891delT

159 papers

NM_000350.3

p.N965S

c.2894A>G

7 papers

NM_000350.3

p.N965K

c.2895T>G

7 papers

NM_000350.3

p.N965K

c.2895T>A

1 paper

NM_000350.3

p.H964L

c.2891A>T

1 paper

NM_000350.3

p.H964fs

c.2890_2891fs

8 papers

NM_000350.3

p.G966E

c.2897G>A

5 papers

NM_000350.3

p.G963fs

c.2887_2888fs

26 papers

NM_000350.3

p.G963delFs

c.2888delC

3 papers

NM_000350.3

p.G963V

c.2888G>T

2 papers

NM_000350.3

p.G963A

c.2888G>C