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.D1613fs

c.4837_4838fs

Surrounding Variants

3 papers

NM_000350.3

p.D1613N

c.4837G>A

2 papers

NM_000350.3

p.D1613fs

c.4837_4838fs

4 papers

NM_000350.3

p.D1613delFs

c.4838delT

1 paper

NM_000350.3

p.E1610_D1613del4

c.4828_4838del12

1 paper

NM_000350.3

p.T1611fs

c.4831_4832fs

2 papers

NM_000350.3

p.T1611delFs

c.4832delG

3 papers

NM_000350.3

p.N1614K

c.4842C>G

1 paper

NM_000350.3

p.N1614fs

c.4840_4841fs

3 papers

NM_000350.3

p.N1614K

c.4842C>A

2 papers

NM_000350.3

p.T1611delFs

c.4831delT

2 papers

NM_000350.3

p.T1611fs

c.4831_4832fs

1 paper

NM_000350.3

p.I1615V

c.4843A>G