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

1 paper

NM_000350.3

p.N2183fs

c.6547_6548fs

Surrounding Variants

1 paper

NM_000350.3

p.L2182_N2183insFs

c.6545_6548dup4

1 paper

NM_000350.3

p.P2184fs

c.6550_6551fs

2 papers

NM_000350.3

p.N2183insFs

c.6548_6549ins4

1 paper

NM_000350.3

p.L2182_N2183delFs

c.6544_6547del4

1 paper

NM_000350.3

p.L2182L

c.6544C>T

2 papers

NM_000350.3

p.D2181D

c.6543C>T

19 papers

NM_000350.3

p.Q2187*

c.6559C>T

2 papers

NM_000350.3

p.P2180L

c.6539C>T

4 papers

NM_000350.3

p.P2180fs

c.6538_6539fs

5 papers

NM_000350.3

p.L2179delFs

c.6537delA

1 paper

NM_000350.3

p.Q2187R

c.6560A>G

3 papers

NM_000350.3

p.Q2187P

c.6560A>C