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.N170_I171insAA

c.508_512ins6

Surrounding Variants

1 paper

NM_000350.3

p.N170T

c.509A>C

1 paper

NM_000350.3

p.I168_K169delFs

c.502_505del4

2 papers

NM_000350.3

p.F166_K169del0

c.498_506del9

1 paper

NM_000350.3

p.I171F

c.511A>T

1 paper

NM_000350.3

p.K169*

c.505A>T

1 paper

NM_000350.3

p.K169E

c.505A>G

1 paper

NM_000350.3

p.I171I

c.513C>T

1 paper

NM_000350.3

p.G172C

c.514G>T

26 papers

NM_000350.3

p.G172S

c.514G>A

1 paper

NM_000350.3

p.I168F

c.502A>T

1 paper

NM_000350.3

p.I168V

c.502A>G

1 paper

NM_000350.3

p.F166_L167delFs

c.498_499delGA