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.Q841_L844del0

c.2522_2530del9

Surrounding Variants

4 papers

NM_000350.3

p.L844R

c.2531T>G

1 paper

NM_000350.3

p.L844L

c.2532C>G

1 paper

NM_000350.3

p.L845_D846insAAG

c.2533_2537ins9

1 paper

NM_000350.3

p.M843R

c.2528T>G

1 paper

NM_000350.3

p.M842_M843delFs

c.2526_2527delTC

1 paper

NM_000350.3

p.D846Y

c.2536G>T

8 papers

NM_000350.3

p.D846H

c.2536G>C

1 paper

NM_000350.3

p.D846N

c.2536G>A

5 papers

NM_000350.3

p.D846V

c.2537A>T

2 papers

NM_000350.3

p.D846G

c.2537A>G

2 papers

NM_000350.3

p.A847V

c.2540C>T

7 papers

NM_000350.3

p.Q841P

c.2522A>C