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

42 papers

NM_000350.3

p.R152Q

c.455G>A

Surrounding Variants

1 paper

NM_000350.3

p.R152P

c.455G>C

47 papers

NM_000350.3

p.R152*

c.454C>T

2 papers

NM_000350.3

p.R152G

c.454C>G

4 papers

NM_000350.3

p.I153L

c.457A>T

2 papers

NM_000350.3

p.I151M

c.453A>G

4 papers

NM_000350.3

p.I153L

c.457A>C

6 papers

NM_000350.3

p.I151T

c.452T>C

1 paper

NM_000350.3

p.G150delFs

c.448delC

1 paper

NM_000350.3

p.R154S

c.462G>C

1 paper

NM_000350.3

p.G150R

c.448G>A

1 paper

NM_000350.3

p.D155N

c.463G>A

1 paper

NM_000350.3

p.R149Fs

c.447delinsCCCTCFs