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

24 papers

NM_000350.3

p.M1882I

c.5646G>T

Surrounding Variants

23 papers

NM_000350.3

p.M1882I

c.5646G>C

25 papers

NM_000350.3

p.M1882I

c.5646G>A

4 papers

NM_000350.3

p.K1877_A1881ins1

c.5629_5643dup15

1 paper

NM_000350.3

p.M1882ins5

c.5644_5645ins15

11 papers

NM_000350.3

p.M1882T

c.5645T>C

8 papers

NM_000350.3

p.M1882V

c.5644A>G

13 papers

NM_000350.3

p.A1881V

c.5642C>T

3 papers

NM_000350.3

p.A1881G

c.5642C>G

1 paper

NM_000350.3

p.A1881delFs

c.5641delC

2 papers

NM_000350.3

p.V1884E

c.5651T>A

1 paper

NM_000350.3

p.A1881S

c.5641G>T

1 paper

NM_000350.3

p.A1881fs

c.5641_5642fs