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.F216C

c.647T>G

Surrounding Variants

1 paper

NM_000350.3

p.S217N

c.650G>A

1 paper

NM_000350.3

p.S217delFs

c.650delC

1 paper

NM_000350.3

p.I215V

c.643A>G

2 papers

NM_000350.3

p.Q218*

c.652C>T

1 paper

NM_000350.3

p.I214insFs

c.641dupT

1 paper

NM_000350.3

p.Q218K

c.652C>A

1 paper

NM_000350.3

p.I214T

c.641T>C

2 papers

NM_000350.3

p.I214N

c.641T>A

1 paper

NM_000350.3

p.Q218insFs

c.653dupA

1 paper

NM_000350.3

p.I214V

c.640A>G

2 papers

NM_000350.3

p.F213delFs

c.639delG

15 papers

NM_000350.3

p.R219*

c.655A>T