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

14 papers

NM_000350.3

p.A222_R226delFs

c.666_678del13

Surrounding Variants

3 papers

NM_000350.3

p.Y227N

c.679T>A

1 paper

NM_000350.3

p.R226del1

c.676_677delGCG

2 papers

NM_000350.3

p.Y227C

c.680A>G

1 paper

NM_000350.3

p.Y227*

c.681T>G

4 papers

NM_000350.3

p.R226L

c.677G>T

6 papers

NM_000350.3

p.R226H

c.677G>A

2 papers

NM_000350.3

p.A228S

c.682G>T

2 papers

NM_000350.3

p.A228T

c.682G>A

2 papers

NM_000350.3

p.R226C

c.676C>T

2 papers

NM_000350.3

p.R226G

c.676C>G

5 papers

NM_000350.3

p.R226S

c.676C>A

1 paper

NM_000350.3

p.V225A

c.674T>C