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

4 papers

NM_000350.3

p.S2072R

c.6216T>G

Surrounding Variants

1 paper

NM_000350.3

p.S2072S

c.6216T>C

4 papers

NM_000350.3

p.S2072R

c.6216T>A

10 papers

NM_000350.3

p.S2072N

c.6215G>A

5 papers

NM_000350.3

p.G2073A

c.6218G>C

4 papers

NM_000350.3

p.S2072R

c.6214A>C

1 paper

NM_000350.3

p.G2073_G2074insFs

c.6219_6220insT

3 papers

NM_000350.3

p.Y2071*

c.6213C>G

3 papers

NM_000350.3

p.Y2071*

c.6213C>A

8 papers

NM_000350.3

p.G2074S

c.6220G>A

1 paper

NM_000350.3

p.G2074fs

c.6220_6221fs

1 paper

NM_000350.3

p.Y2071F

c.6212A>T

12 papers

NM_000350.3

p.G2074V

c.6221G>T