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

2 papers

NM_000350.3

p.V1973fs

c.5917_5918fs

Surrounding Variants

77 papers

NM_000350.3

p.V1973delFs

c.5917delC

3 papers

NM_000350.3

p.V1973fs

c.5917_5918fs

4 papers

NM_000350.3

p.G1972E

c.5915G>A

1 paper

NM_000350.3

p.N1974fs

c.5920_5921fs

12 papers

NM_000350.3

p.G1972R

c.5914G>C

13 papers

NM_000350.3

p.G1972R

c.5914G>A

1 paper

NM_000350.3

p.N1974Y

c.5920A>T

1 paper

NM_000350.3

p.N1974D

c.5920A>G

5 papers

NM_000350.3

p.L1970_L1971ins0

c.5910_5912dupCCT

5 papers

NM_000350.3

p.N1974S

c.5921A>G

1 paper

NM_000350.3

p.N1974insFs

c.5921dupA

10 papers

NM_000350.3

p.L1971R

c.5912T>G