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.Q234_G235ins1

c.702_703insATC

Surrounding Variants

1 paper

NM_000350.3

p.Q234ins1

c.701_702insATC

1 paper

NM_000350.3

p.L232_Q234ins1

c.696_701dup6

1 paper

NM_000350.3

p.G235S

c.703G>A

1 paper

NM_000350.3

p.Q234R

c.701A>G

7 papers

NM_000350.3

p.Q234fs

c.700_701fs

25 papers

NM_000350.3

p.Q234*

c.700C>T

1 paper

NM_000350.3

p.S233del1

c.697_699delGGA

1 paper

NM_000350.3

p.S233S

c.699C>T

1 paper

NM_000350.3

p.S233insFs

c.697dupT

1 paper

NM_000350.3

p.T236_L237insG

c.706_710ins3

1 paper

NM_000350.3

p.S233_Q234ins5

c.697_701ins15

1 paper

NM_000350.3

p.G235_T236delFs

c.703_706del4