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

12 papers

NM_000350.3

p.G88G

c.264A>T

Surrounding Variants

3 papers

NM_000350.3

p.E89*

c.265G>T

5 papers

NM_000350.3

p.G88R

c.262G>C

6 papers

NM_000350.3

p.G88R

c.262G>A

1 paper

NM_000350.3

p.E89D

c.267A>T

1 paper

NM_000350.3

p.E89D

c.267A>C

1 paper

NM_000350.3

p.P87insFs

c.260dupC

1 paper

NM_000350.3

p.T86insFs

c.257_258dupCC

2 papers

NM_000350.3

p.P87_E89delFs

c.259_266del8

2 papers

NM_000350.3

p.P87S

c.259C>T

1 paper

NM_000350.3

p.S90F

c.269C>T

1 paper

NM_000350.3

p.S90delFs

c.269delG

1 paper

NM_000350.3

p.T86T

c.258C>A