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.I1732_M1733Splc

c.5196+662A>G

Surrounding Variants

1 paper

NM_000350.3

p.I1732_M1733Splc

c.5196+567G>A

2 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+771G>A

5 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+899C>T

1 paper

NM_000350.3

p.I1732_M1733Splc

c.5196+323A>C

16 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1013A>G

6 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1015A>G

50 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1056A>G

2 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+235G>A

3 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1134C>G

12 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1136C>A

4 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1137G>T

1 paper

NM_000350.3

p.I1732_M1733Splc

c.5196+1137G>C