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.E53_C54ins1

c.159_160insTAA

Surrounding Variants

1 paper

NM_000350.3

p.C54insFs

c.160_161insCT

1 paper

NM_000350.3

p.E53ins0

c.157_159dupGAA

10 papers

NM_000350.3

p.C54G

c.160T>G

1 paper

NM_000350.3

p.E53V

c.158A>T

4 papers

NM_000350.3

p.E53*

c.157G>T

1 paper

NM_000350.3

p.E53Q

c.157G>C

4 papers

NM_000350.3

p.C54Splc

c.160+1G>A

1 paper

NM_000350.3

p.E53K

c.157G>A

1 paper

NM_000350.3

p.H52delFs

c.156delA

1 paper

NM_000350.3

p.H52delFs

c.155_156delAT

4 papers

NM_000350.3

p.H52Q

c.156T>G

10 papers

NM_000350.3

p.C54Splc

c.160+2T>C