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

16 papers

NM_000350.3

p.Q21*

c.61C>T

Surrounding Variants

1 paper

NM_000350.3

p.Q21_K22insA

c.61_65ins3

1 paper

NM_000350.3

p.R20M

c.59G>T

1 paper

NM_000350.3

p.R20T

c.59G>C

1 paper

NM_000350.3

p.Q21_K22insFs

c.63_64insC

1 paper

NM_000350.3

p.K22fs

c.64_65fs

1 paper

NM_000350.3

p.K22E

c.64A>G

1 paper

NM_000350.3

p.R20G

c.58A>G

1 paper

NM_000350.3

p.K22R

c.65A>G

4 papers

NM_000350.3

p.K22N

c.66G>T

4 papers

NM_000350.3

p.K22N

c.66G>C

6 papers

NM_000350.3

p.K22K

c.66G>A

4 papers

NM_000350.3

p.K22delFs

c.64delT