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.C1840F

c.5519G>T

Surrounding Variants

2 papers

NM_000350.3

p.C1840Y

c.5519G>A

2 papers

NM_000350.3

p.C1840*

c.5520C>A

7 papers

NM_000350.3

p.F1839S

c.5516T>C

1 paper

NM_000350.3

p.F1839Y

c.5516T>A

1 paper

NM_000350.3

p.F1839I

c.5515T>A

1 paper

NM_000350.3

p.G1842A

c.5525G>C

5 papers

NM_000350.3

p.H1838R

c.5513A>G

10 papers

NM_000350.3

p.H1838Y

c.5512C>T

25 papers

NM_000350.3

p.H1838D

c.5512C>G

1 paper

NM_000350.3

p.G1842fs

c.5524_5525fs

12 papers

NM_000350.3

p.H1838N

c.5512C>A

13 papers

NM_000350.3

p.R1843W

c.5527C>T