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

3 papers

NM_000350.3

p.L634P

c.1901T>C

Surrounding Variants

14 papers

NM_000350.3

p.Q635*

c.1903C>T

6 papers

NM_000350.3

p.Q635K

c.1903C>A

1 paper

NM_000350.3

p.Y633H

c.1897T>C

1 paper

NM_000350.3

p.Q635H

c.1905G>T

1 paper

NM_000350.3

p.Q635H

c.1905G>C

30 papers

NM_000350.3

p.Q636*

c.1906C>T

1 paper

NM_000350.3

p.I632fs

c.1894_1895fs

11 papers

NM_000350.3

p.Q636K

c.1906C>A

2 papers

NM_000350.3

p.I632I

c.1896C>A

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