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.M720V

c.2158A>G

Surrounding Variants

13 papers

NM_000350.3

p.M720_H721Splc

c.2160+1G>T

18 papers

NM_000350.3

p.M720_H721Splc

c.2160+1G>C

1 paper

NM_000350.3

p.M710_M720del0

c.2128_2160del33

5 papers

NM_000350.3

p.M720_H721Splc

c.2160+2T>G

9 papers

NM_000350.3

p.T716M

c.2147C>T

1 paper

NM_000350.3

p.L715R

c.2144T>G

1 paper

NM_000350.3

p.L714I

c.2140C>A

1 paper

NM_000350.3

p.I712_F713del2

c.2134_2138del6

1 paper

NM_000350.3

p.S711insFs

c.2132_2133ins4

1 paper

NM_000350.3

p.M710T

c.2129T>C

3 papers

NM_000350.3

p.M710V

c.2128A>G

1 paper

NM_000350.3

p.S709S

c.2127G>A