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.L11_W12del2

c.31_35del6

Surrounding Variants

2 papers

NM_000350.3

p.K13E

c.37A>G

2 papers

NM_000350.3

p.W12delFs

c.35delC

1 paper

NM_000350.3

p.W12del1

c.34_36delCCA

2 papers

NM_000350.3

p.W12C

c.36G>C

3 papers

NM_000350.3

p.W12*

c.36G>A

1 paper

NM_000350.3

p.L11_W12delFs

c.31_35del5

3 papers

NM_000350.3

p.K13M

c.38A>T

1 paper

NM_000350.3

p.K13delins

c.38delinsG

2 papers

NM_000350.3

p.W12L

c.35G>T

1 paper

NM_000350.3

p.W12S

c.35G>C

5 papers

NM_000350.3

p.W12*

c.35G>A

2 papers

NM_000350.3

p.N14fs

c.40_41fs