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

5 papers

NM_000350.3

p.C1967fs

c.5899_5900fs

Surrounding Variants

3 papers

NM_000350.3

p.C1967G

c.5899T>G

1 paper

NM_000350.3

p.C1967R

c.5899T>C

1 paper

NM_000350.3

p.C1967Y

c.5900G>A

1 paper

NM_000350.3

p.E1966_C1967Splc

c.5899-1G>A

2 papers

NM_000350.3

p.E1966_C1967Splc

c.5899-3T>G

3 papers

NM_000350.3

p.E1966_C1967Splc

c.5899-3T>C

2 papers

NM_000350.3

p.F1968fs

c.5902_5903fs

1 paper

NM_000350.3

p.G1969C

c.5905G>T

1 paper

NM_000350.3

p.G1969S

c.5905G>A

4 papers

NM_000350.3

p.F1968delFs

c.5904delA

1 paper

NM_000350.3

p.G1969G

c.5907C>A

57 papers

NM_000350.3

p.L1970F

c.5908C>T