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

4 papers

NM_000350.3

p.A549D

c.1646C>A

Surrounding Variants

2 papers

NM_000350.3

p.A549P

c.1645G>C

3 papers

NM_000350.3

p.A549T

c.1645G>A

6 papers

NM_000350.3

p.G550*

c.1648G>T

39 papers

NM_000350.3

p.G550R

c.1648G>C

42 papers

NM_000350.3

p.G550R

c.1648G>A

6 papers

NM_000350.3

p.W548*

c.1644G>A

1 paper

NM_000350.3

p.A549delFs

c.1646delG

1 paper

NM_000350.3

p.G550fs

c.1648_1649fs

1 paper

NM_000350.3

p.G550V

c.1649G>T

1 paper

NM_000350.3

p.W548insFs

c.1642dupT

7 papers

NM_000350.3

p.W548*

c.1643G>A

2 papers

NM_000350.3

p.W548R

c.1642T>C