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.I1521L

c.4561A>C

Surrounding Variants

3 papers

NM_000350.3

p.I1521fs

c.4561_4562fs

4 papers

NM_000350.3

p.I1521delFs

c.4561delT

1 paper

NM_000350.3

p.E1520D

c.4560A>T

1 paper

NM_000350.3

p.E1520D

c.4560A>C

3 papers

NM_000350.3

p.E1520G

c.4559A>G

1 paper

NM_000350.3

p.E1520K

c.4558G>A

1 paper

NM_000350.3

p.T1519fs

c.4555_4556fs

1 paper

NM_000350.3

p.T1519T

c.4557G>A

3 papers

NM_000350.3

p.T1519M

c.4556C>T

3 papers

NM_000350.3

p.T1519R

c.4556C>G

6 papers

NM_000350.3

p.T1519delFs

c.4555delT

4 papers

NM_000350.3

p.T1519fs

c.4555_4556fs