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.R653S

c.1957C>A

Surrounding Variants

66 papers

NM_000350.3

p.R653C

c.1957C>T

1 paper

NM_000350.3

p.R653G

c.1957C>G

6 papers

NM_000350.3

p.R653L

c.1958G>T

23 papers

NM_000350.3

p.R653H

c.1958G>A

1 paper

NM_000350.3

p.N652delFs

c.1956delG

1 paper

NM_000350.3

p.R653delFs

c.1957_1958delCG

2 papers

NM_000350.3

p.C654Y

c.1961G>A

2 papers

NM_000350.3

p.L651R

c.1952T>G

1 paper

NM_000350.3

p.I650_L651delFs

c.1948_1951del4

1 paper

NM_000350.3

p.L651L

c.1951C>T

1 paper

NM_000350.3

p.F655fs

c.1963_1964fs

29 papers

NM_000350.3

p.F655C

c.1964T>G