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

4 papers

NM_000350.3

p.C81S

c.242G>C

Surrounding Variants

3 papers

NM_000350.3

p.P80_C81delFs

c.240_241delAG

1 paper

NM_000350.3

p.C81R

c.241T>C

3 papers

NM_000350.3

p.C81S

c.241T>A

2 papers

NM_000350.3

p.C81fs

c.241_242fs

3 papers

NM_000350.3

p.C81Fs

c.243delinsTGAFs

1 paper

NM_000350.3

p.F82L

c.246T>G

1 paper

NM_000350.3

p.P80S

c.238C>T

1 paper

NM_000350.3

p.P80fs

c.238_239fs

1 paper

NM_000350.3

p.N79K

c.237T>G

2 papers

NM_000350.3

p.N79N

c.237T>C

1 paper

NM_000350.3

p.N79K

c.237T>A

1 paper

NM_000350.3

p.N79delFs

c.235_236delTT