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.E1174_G1175Splc

c.3522+1G>T

Surrounding Variants

7 papers

NM_000350.3

p.E1174_G1175Splc

c.3522+1G>A

3 papers

NM_000350.3

p.E1174E

c.3522G>A

1 paper

NM_000350.3

p.E1174_G1175Splc

c.3522+6T>C

1 paper

NM_000350.3

p.E1174_G1175Splc

c.3522+7G>A

1 paper

NM_000350.3

p.E1174_G1175Splc

c.3522+10T>G

1 paper

NM_000350.3

p.G1172S

c.3514G>A

1 paper

NM_000350.3

p.R1170K

c.3509G>A

1 paper

NM_000350.3

p.S1168fs

c.3502_3503fs

1 paper

NM_000350.3

p.Q1167delFs

c.3501delC

3 papers

NM_000350.3

p.Q1167delFs

c.3499delG

2 papers

NM_000350.3

p.Q1167fs

c.3499_3500fs

1 paper

NM_000350.3

p.E1174_G1175Splc

c.3522+31C>A