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

7 papers

NM_000350.3

p.G631R

c.1891G>A

Surrounding Variants

6 papers

NM_000350.3

p.G631R

c.1891G>C

1 paper

NM_000350.3

p.V630delFs

c.1890delA

6 papers

NM_000350.3

p.G631V

c.1892G>T

1 paper

NM_000350.3

p.A626_V630delFs

c.1876_1888del13

1 paper

NM_000350.3

p.I632fs

c.1894_1895fs

1 paper

NM_000350.3

p.I632S

c.1895T>G

2 papers

NM_000350.3

p.I632N

c.1895T>A

3 papers

NM_000350.3

p.I632delFs

c.1894delT

1 paper

NM_000350.3

p.I632fs

c.1894_1895fs

2 papers

NM_000350.3

p.I632I

c.1896C>A

1 paper

NM_000350.3

p.Y633H

c.1897T>C

2 papers

NM_000350.3

p.P629S

c.1885C>T