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.P85L

c.254C>T

Surrounding Variants

2 papers

NM_000350.3

p.S84R

c.252C>G

4 papers

NM_000350.3

p.S84fs

c.250_251fs

3 papers

NM_000350.3

p.S84R

c.252C>A

1 paper

NM_000350.3

p.T86fs

c.256_257fs

2 papers

NM_000350.3

p.T86A

c.256A>G

26 papers

NM_000350.3

p.Q83_S84insFs

c.247_250dup4

2 papers

NM_000350.3

p.Q83_S84delFs

c.247_250del4

1 paper

NM_000350.3

p.T86I

c.257C>T

1 paper

NM_000350.3

p.T86T

c.258C>A

19 papers

NM_000350.3

p.S84fs

c.250_251fs

1 paper

NM_000350.3

p.T86delFs

c.256_257delGT

2 papers

NM_000350.3

p.S84R

c.250A>C