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.T972I

c.2915C>T

Surrounding Variants

25 papers

NM_000350.3

p.T972N

c.2915C>A

2 papers

NM_000350.3

p.T972P

c.2914A>C

10 papers

NM_000350.3

p.L973fs

c.2917_2918fs

2 papers

NM_000350.3

p.L973S

c.2918T>C

1 paper

NM_000350.3

p.T971S

c.2912C>G

16 papers

NM_000350.3

p.T971N

c.2912C>A

1 paper

NM_000350.3

p.T971S

c.2911A>T

1 paper

NM_000350.3

p.T971A

c.2911A>G

1 paper

NM_000350.3

p.T971P

c.2911A>C

5 papers

NM_000350.3

p.T970I

c.2909C>T

2 papers

NM_000350.3

p.T970delFs

c.2908delT

2 papers

NM_000350.3

p.T970fs

c.2908_2909fs