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.F3V

c.7T>G

Surrounding Variants

1 paper

NM_000350.3

p.F3insFs

c.7_8ins7

3 papers

NM_000350.3

p.G2_F3insFs

c.6_7insC

1 paper

NM_000350.3

p.F3_V4insT

c.7_11ins3

1 paper

NM_000350.3

p.F3L

c.7T>C

1 paper

NM_000350.3

p.G2delFs

c.6delG

1 paper

NM_000350.3

p.F3insFs

c.8_9insA

4 papers

NM_000350.3

p.F3C

c.8T>G

2 papers

NM_000350.3

p.F3S

c.8T>C

2 papers

NM_000350.3

p.G2G

c.6C>G

7 papers

NM_000350.3

p.G2insFs

c.4dupG

1 paper

NM_000350.3

p.G2_F3insFs

c.6_7insA

11 papers

NM_000350.3

p.G2delFs

c.5delC