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

3 papers

NM_000350.3

p.Q6*

c.16C>T

Surrounding Variants

1 paper

NM_000350.3

p.Q6E

c.16C>G

1 paper

NM_000350.3

p.Q6insFs

c.16_17insT

1 paper

NM_000350.3

p.Q6ins1

c.16_17insGTT

1 paper

NM_000350.3

p.R5I

c.14G>T

1 paper

NM_000350.3

p.R5insFs

c.13dupA

2 papers

NM_000350.3

p.R5K

c.14G>A

1 paper

NM_000350.3

p.R5*

c.13A>T

1 paper

NM_000350.3

p.V4delFs

c.11_12delCA

1 paper

NM_000350.3

p.I7T

c.20T>C

1 paper

NM_000350.3

p.I7K

c.20T>A

1 paper

NM_000350.3

p.R5_Q6delFs

c.13_16del4

4 papers

NM_000350.3

p.G2_I7del0

c.5_19del15