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.I1562N

c.4685T>A

Surrounding Variants

54 papers

NM_000350.3

p.I1562T

c.4685T>C

1 paper

NM_000350.3

p.G1563R

c.4687G>C

1 paper

NM_000350.3

p.G1563R

c.4687G>A

1 paper

NM_000350.3

p.G1563A

c.4688G>C

2 papers

NM_000350.3

p.G1563delFs

c.4689delT

2 papers

NM_000350.3

p.G1564fs

c.4690_4691fs

3 papers

NM_000350.3

p.I1560N

c.4679T>A

1 paper

NM_000350.3

p.G1564E

c.4691G>A

2 papers

NM_000350.3

p.G1559E

c.4676G>A

1 paper

NM_000350.3

p.K1565R

c.4694A>G

1 paper

NM_000350.3

p.G1559*

c.4675G>T

3 papers

NM_000350.3

p.L1566F

c.4696C>T