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

2 papers

NM_000350.3

p.A1773fs

c.5317_5318fs

Surrounding Variants

1 paper

NM_000350.3

p.A1773S

c.5317G>T

2 papers

NM_000350.3

p.A1773insFs

c.5317_5318insA

13 papers

NM_000350.3

p.W1772*

c.5316G>A

78 papers

NM_000350.3

p.A1773V

c.5318C>T

8 papers

NM_000350.3

p.A1773E

c.5318C>A

12 papers

NM_000350.3

p.W1772*

c.5315G>A

1 paper

NM_000350.3

p.A1773delFs

c.5318delG

4 papers

NM_000350.3

p.W1772fs

c.5314_5315fs

1 paper

NM_000350.3

p.G1771V

c.5312G>T

8 papers

NM_000350.3

p.G1771R

c.5311G>C

8 papers

NM_000350.3

p.G1771R

c.5311G>A

1 paper

NM_000350.3

p.I1775F

c.5323A>T