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.N1818fs

c.5452_5453fs

Surrounding Variants

2 papers

NM_000350.3

p.E1817D

c.5451G>T

2 papers

NM_000350.3

p.E1817D

c.5451G>C

1 paper

NM_000350.3

p.N1818insFs

c.5453_5454insGA

1 paper

NM_000350.3

p.N1818delFs

c.5453delT

1 paper

NM_000350.3

p.F1816S

c.5447T>C

5 papers

NM_000350.3

p.R1820P

c.5459G>C

1 paper

NM_000350.3

p.R1820R

c.5460G>A

2 papers

NM_000350.3

p.R1820_T1821Splc

c.5460+1G>T

3 papers

NM_000350.3

p.R1820_T1821Splc

c.5460+1G>C

16 papers

NM_000350.3

p.R1820_T1821Splc

c.5460+1G>A

1 paper

NM_000350.3

p.R1820_T1821Splc

c.5460+2T>C

1 paper

NM_000350.3

p.R1820_T1821Splc

c.5460+3G>A