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

9 papers

NM_000350.3

p.T1112N

c.3335C>A

Surrounding Variants

1 paper

NM_000350.3

p.T1112fs

c.3334_3335fs

1 paper

NM_000350.3

p.T1112A

c.3334A>G

1 paper

NM_000350.3

p.I1113delFs

c.3338delA

2 papers

NM_000350.3

p.R1111fs

c.3331_3332fs

1 paper

NM_000350.3

p.G1110G

c.3330C>A

2 papers

NM_000350.3

p.G1110V

c.3329G>T

2 papers

NM_000350.3

p.G1110fs

c.3328_3329fs

10 papers

NM_000350.3

p.G1110Splc

c.3329-1G>A

1 paper

NM_000350.3

p.I1114fs

c.3340_3341fs

2 papers

NM_000350.3

p.M1115fs

c.3343_3344fs

8 papers

NM_000350.3

p.G1110Splc

c.3329-2A>T

5 papers

NM_000350.3

p.G1110Splc

c.3329-2A>G