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.S2080fs

c.6238_6239fs

Surrounding Variants

4 papers

NM_000350.3

p.S2080fs

c.6238_6239fs

8 papers

NM_000350.3

p.S2080delFs

c.6238_6239delGA

2 papers

NM_000350.3

p.T2081I

c.6242C>T

1 paper

NM_000350.3

p.A2082P

c.6244G>C

2 papers

NM_000350.3

p.K2078E

c.6232A>G

2 papers

NM_000350.3

p.K2078Q

c.6232A>C

1 paper

NM_000350.3

p.A2082V

c.6245C>T

8 papers

NM_000350.3

p.R2077Q

c.6230G>A

63 papers

NM_000350.3

p.R2077W

c.6229C>T

10 papers

NM_000350.3

p.R2077G

c.6229C>G

2 papers

NM_000350.3

p.K2076delFs

c.6228delC

1 paper

NM_000350.3

p.K2076K

c.6228G>A