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

4 papers

NM_000350.3

p.N529S

c.1586A>G

Surrounding Variants

3 papers

NM_000350.3

p.D530N

c.1588G>A

7 papers

NM_000350.3

p.Y528*

c.1584C>G

7 papers

NM_000350.3

p.Y528*

c.1584C>A

1 paper

NM_000350.3

p.S527S

c.1581C>T

1 paper

NM_000350.3

p.S527I

c.1580G>T

9 papers

NM_000350.3

p.E531G

c.1592A>G

1 paper

NM_000350.3

p.E531D

c.1593A>T

1 paper

NM_000350.3

p.E531D

c.1593A>C

2 papers

NM_000350.3

p.F525_E526del2

c.1573_1577del6

5 papers

NM_000350.3

p.E526A

c.1577A>C

1 paper

NM_000350.3

p.E526Q

c.1576G>C

1 paper

NM_000350.3

p.F525L

c.1575T>G