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.F74L

c.220T>C

Surrounding Variants

1 paper

NM_000350.3

p.F74S

c.221T>C

1 paper

NM_000350.3

p.I73I

c.219C>T

2 papers

NM_000350.3

p.I73I

c.219C>A

1 paper

NM_000350.3

p.G72_I73del1

c.216_218delATC

2 papers

NM_000350.3

p.I73T

c.218T>C

1 paper

NM_000350.3

p.I73_F74delFs

c.217_221del5

23 papers

NM_000350.3

p.C75G

c.223T>G

4 papers

NM_000350.3

p.C75R

c.223T>C

2 papers

NM_000350.3

p.I73fs

c.217_218fs

2 papers

NM_000350.3

p.I73F

c.217A>T

1 paper

NM_000350.3

p.I73L

c.217A>C

2 papers

NM_000350.3

p.Q71insFs

c.213dupG