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

32 papers

NM_000350.3

p.S1642R

c.4926C>G

Surrounding Variants

31 papers

NM_000350.3

p.S1642R

c.4926C>A

4 papers

NM_000350.3

p.S1642I

c.4925G>T

2 papers

NM_000350.3

p.L1643fs

c.4927_4928fs

1 paper

NM_000350.3

p.A1641_S1642del1

c.4922_4924delTGG

2 papers

NM_000350.3

p.L1643delFs

c.4927delG

3 papers

NM_000350.3

p.S1642_L1643delFs

c.4924_4927del4

2 papers

NM_000350.3

p.S1642fs

c.4924_4925fs

31 papers

NM_000350.3

p.S1642R

c.4924A>C

64 papers

NM_000350.3

p.R1640Q

c.4919G>A

84 papers

NM_000350.3

p.R1640W

c.4918C>T

2 papers

NM_000350.3

p.L1639*

c.4916T>G

2 papers

NM_000350.3

p.L1639*

c.4916T>A