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

1 paper

NM_000350.3

p.S1993fs

c.5977_5978fs

Surrounding Variants

3 papers

NM_000350.3

p.S1993P

c.5977T>C

1 paper

NM_000350.3

p.S1993L

c.5978C>T

3 papers

NM_000350.3

p.S1993delFs

c.5977delA

2 papers

NM_000350.3

p.S1993fs

c.5977_5978fs

3 papers

NM_000350.3

p.V1991V

c.5973G>C

4 papers

NM_000350.3

p.G1994E

c.5981G>A

1 paper

NM_000350.3

p.D1995fs

c.5983_5984fs

2 papers

NM_000350.3

p.D1995delFs

c.5983delC

1 paper

NM_000350.3

p.A1996insFs

c.5987_5988insA

1 paper

NM_000350.3

p.T1989I

c.5966C>T

1 paper

NM_000350.3

p.T1989S

c.5966C>G

1 paper

NM_000350.3

p.T1989S

c.5965A>T