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

2 papers

NM_000350.3

p.I604M

c.1812C>G

Surrounding Variants

2 papers

NM_000350.3

p.I604S

c.1811T>G

1 paper

NM_000350.3

p.W605S

c.1814G>C

6 papers

NM_000350.3

p.W605*

c.1814G>A

1 paper

NM_000350.3

p.W605C

c.1815G>T

1 paper

NM_000350.3

p.W605C

c.1815G>C

4 papers

NM_000350.3

p.W605*

c.1815G>A

1 paper

NM_000350.3

p.G606S

c.1816G>A

1 paper

NM_000350.3

p.Y603F

c.1808A>T

4 papers

NM_000350.3

p.Y603C

c.1808A>G

9 papers

NM_000350.3

p.Y603H

c.1807T>C

10 papers

NM_000350.3

p.G606D

c.1817G>A

1 paper

NM_000350.3

p.G606G

c.1818C>T