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.P1460L

c.4379C>T

Surrounding Variants

1 paper

NM_000350.3

p.T1459_P1460insFs

c.4375_4379dup5

1 paper

NM_000350.3

p.T1459_P1460delFs

c.4375_4379del5

1 paper

NM_000350.3

p.W1461fs

c.4381_4382fs

1 paper

NM_000350.3

p.T1459insFs

c.4375_4376ins4

12 papers

NM_000350.3

p.W1461*

c.4382G>A

1 paper

NM_000350.3

p.T1459Fs

c.4375_4376delinsAGTTFs

5 papers

NM_000350.3

p.W1461C

c.4383G>T

6 papers

NM_000350.3

p.W1461C

c.4383G>C

12 papers

NM_000350.3

p.W1461*

c.4383G>A

1 paper

NM_000350.3

p.S1458*

c.4373C>G

1 paper

NM_000350.3

p.S1458*

c.4373C>A

1 paper

NM_000350.3

p.T1463fs

c.4387_4388fs