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.T771P

c.2311A>C

Surrounding Variants

5 papers

NM_000350.3

p.T771S

c.2311A>T

4 papers

NM_000350.3

p.T771S

c.2312C>G

1 paper

NM_000350.3

p.C764_Y769del6

c.2290_2306del18

3 papers

NM_000350.3

p.C764_Y769del0

c.2291_2305del15

1 paper

NM_000350.3

p.I768M

c.2304C>G

1 paper

NM_000350.3

p.I768I

c.2304C>A

55 papers

NM_000350.3

p.V767D

c.2300T>A

16 papers

NM_000350.3

p.V767delFs

c.2299delC

4 papers

NM_000350.3

p.V767fs

c.2299_2300fs

3 papers

NM_000350.3

p.G766insFs

c.2297_2298insG

5 papers

NM_000350.3

p.G766V

c.2297G>T

6 papers

NM_000350.3

p.G766D

c.2297G>A