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.N1974K

c.5922T>A

Surrounding Variants

1 paper

NM_000350.3

p.N1974insFs

c.5921dupA

2 papers

NM_000350.3

p.N1974K

c.5922T>G

1 paper

NM_000350.3

p.G1975C

c.5923G>T

9 papers

NM_000350.3

p.G1975R

c.5923G>C

5 papers

NM_000350.3

p.N1974S

c.5921A>G

1 paper

NM_000350.3

p.N1974fs

c.5920_5921fs

6 papers

NM_000350.3

p.G1975V

c.5924G>T

3 papers

NM_000350.3

p.G1975D

c.5924G>A

1 paper

NM_000350.3

p.N1974Y

c.5920A>T

1 paper

NM_000350.3

p.N1974D

c.5920A>G

1 paper

NM_000350.3

p.G1975delFs

c.5923delC

3 papers

NM_000350.3

p.V1973fs

c.5917_5918fs