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.F254L

c.762C>A

Surrounding Variants

3 papers

NM_000350.3

p.F254L

c.762C>G

1 paper

NM_000350.3

p.R255fs

c.763_764fs

17 papers

NM_000350.3

p.R255C

c.763C>T

2 papers

NM_000350.3

p.R255G

c.763C>G

3 papers

NM_000350.3

p.F254L

c.760T>C

1 paper

NM_000350.3

p.L253delFs

c.759delG

1 paper

NM_000350.3

p.R255H

c.764G>A

1 paper

NM_000350.3

p.R255delFs

c.763delG

2 papers

NM_000350.3

p.L253H

c.758T>A

3 papers

NM_000350.3

p.V256L

c.766G>T

3 papers

NM_000350.3

p.V256L

c.766G>C

3 papers

NM_000350.3

p.L253F

c.757C>T