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

3 papers

NM_000350.3

p.I40F

c.118A>T

Surrounding Variants

1 paper

NM_000350.3

p.I40V

c.118A>G

1 paper

NM_000350.3

p.I40insFs

c.118_119ins5

1 paper

NM_000350.3

p.F36_V38insFs

c.107_114dup8

2 papers

NM_000350.3

p.L39W

c.116T>G

1 paper

NM_000350.3

p.L39S

c.116T>C

1 paper

NM_000350.3

p.L39V

c.115T>G

1 paper

NM_000350.3

p.W41S

c.122G>C

18 papers

NM_000350.3

p.W41*

c.122G>A

1 paper

NM_000350.3

p.V38G

c.113T>G

1 paper

NM_000350.3

p.W41C

c.123G>C

16 papers

NM_000350.3

p.W41*

c.123G>A

1 paper

NM_000350.3

p.L42*

c.125T>A