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

37 papers

NM_000350.3

p.R2040*

c.6118C>T

Surrounding Variants

1 paper

NM_000350.3

p.R2040P

c.6119G>C

33 papers

NM_000350.3

p.R2040Q

c.6119G>A

1 paper

NM_000350.3

p.G2041S

c.6121G>A

1 paper

NM_000350.3

p.L2039F

c.6115C>T

1 paper

NM_000350.3

p.G2041V

c.6122G>T

10 papers

NM_000350.3

p.G2041D

c.6122G>A

1 paper

NM_000350.3

p.R2040_G2041Fs

c.6119_6123delinsTATGTAFs

1 paper

NM_000350.3

p.R2038P

c.6113G>C

5 papers

NM_000350.3

p.R2038Q

c.6113G>A

2 papers

NM_000350.3

p.V2042I

c.6124G>A

37 papers

NM_000350.3

p.R2038W

c.6112C>T

2 papers

NM_000350.3

p.V2042G

c.6125T>G