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.E814_Q815delFs

c.2442_2445del4

Surrounding Variants

3 papers

NM_000350.3

p.G816V

c.2447G>T

1 paper

NM_000350.3

p.L817V

c.2449C>G

1 paper

NM_000350.3

p.V810_G816del7

c.2428_2447del21

2 papers

NM_000350.3

p.Q815*

c.2443C>T

1 paper

NM_000350.3

p.G818R

c.2452G>C

1 paper

NM_000350.3

p.G818R

c.2452G>A

1 paper

NM_000350.3

p.G818V

c.2453G>T

1 paper

NM_000350.3

p.G818A

c.2453G>C

30 papers

NM_000350.3

p.G818E

c.2453G>A

1 paper

NM_000350.3

p.E814K

c.2440G>A

1 paper

NM_000350.3

p.E813A

c.2438A>C

1 paper

NM_000350.3

p.G803_F812del10

c.2407_2435del30