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.Q2272_D2273Splc

c.6816+1G>C

Surrounding Variants

4 papers

NM_000350.3

p.Q2272_D2273Splc

c.6816+1G>T

16 papers

NM_000350.3

p.Q2272_D2273Splc

c.6816+1G>A

1 paper

NM_000350.3

p.Q2272_D2273Splc

c.6816+2T>G

2 papers

NM_000350.3

p.Q2272_D2273Splc

c.6816+2T>C

4 papers

NM_000350.3

p.Q2272_D2273Splc

c.6816+2T>A

1 paper

NM_000350.3

p.Q2272Q

c.6816G>A

4 papers

NM_000350.3

p.R2269*

c.6805C>T

1 paper

NM_000350.3

p.G2266E

c.6797G>A

5 papers

NM_000350.3

p.Q2272_D2273Splc

c.6816+28G>C

2 papers

NM_000350.3

p.R2263L

c.6788G>T

1 paper

NM_000350.3

p.R2263Q

c.6788G>A

3 papers

NM_000350.3

p.R2263*

c.6787C>T