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.S63*

c.188C>A

Surrounding Variants

1 paper

NM_000350.3

p.S63*

c.188C>G

2 papers

NM_000350.3

p.S63P

c.187T>C

1 paper

NM_000350.3

p.A64P

c.190G>C

1 paper

NM_000350.3

p.A64T

c.190G>A

3 papers

NM_000350.3

p.S63delFs

c.189delT

5 papers

NM_000350.3

p.A64V

c.191C>T

5 papers

NM_000350.3

p.P62L

c.185C>T

1 paper

NM_000350.3

p.A64G

c.191C>G

9 papers

NM_000350.3

p.P62S

c.184C>T

4 papers

NM_000350.3

p.P62A

c.184C>G

1 paper

NM_000350.3

p.P62insFs

c.184_185insA

1 paper

NM_000350.3

p.P62T

c.184C>A