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.L1829R

c.5486T>G

Surrounding Variants

4 papers

NM_000350.3

p.L1829P

c.5486T>C

1 paper

NM_000350.3

p.L1829L

c.5487G>T

2 papers

NM_000350.3

p.V1828M

c.5482G>A

4 papers

NM_000350.3

p.N1826N

c.5478C>T

1 paper

NM_000350.3

p.L1832L

c.5494C>T

2 papers

NM_000350.3

p.N1826S

c.5477A>G

1 paper

NM_000350.3

p.L1833H

c.5498T>A

3 papers

NM_000350.3

p.I1834T

c.5501T>C

2 papers

NM_000350.3

p.L1822L

c.5466G>A

4 papers

NM_000350.3

p.T1821T

c.5463G>A

4 papers

NM_000350.3

p.P1837S

c.5509C>T

1 paper

NM_000350.3

p.P1837A

c.5509C>G