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

39 papers

NM_000350.3

p.W821R

c.2461T>C

Surrounding Variants

40 papers

NM_000350.3

p.W821R

c.2461T>A

4 papers

NM_000350.3

p.W821*

c.2462G>A

4 papers

NM_000350.3

p.W821*

c.2463G>A

1 paper

NM_000350.3

p.Q820R

c.2459A>G

1 paper

NM_000350.3

p.S822G

c.2464A>G

1 paper

NM_000350.3

p.S822N

c.2465G>A

1 paper

NM_000350.3

p.G818V

c.2453G>T

1 paper

NM_000350.3

p.G818A

c.2453G>C

30 papers

NM_000350.3

p.G818E

c.2453G>A

1 paper

NM_000350.3

p.G818R

c.2452G>C

1 paper

NM_000350.3

p.G818R

c.2452G>A

2 papers

NM_000350.3

p.I824V

c.2470A>G