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.P282A

c.844C>G

Surrounding Variants

1 paper

NM_000350.3

p.P282S

c.844C>T

1 paper

NM_000350.3

p.P282ins1

c.845_846insAAG

1 paper

NM_000350.3

p.P282delFs

c.845delG

1 paper

NM_000350.3

p.D279_M280del2

c.835_839del6

3 papers

NM_000350.3

p.R283*

c.847A>T

2 papers

NM_000350.3

p.R283G

c.847A>G

2 papers

NM_000350.3

p.R283K

c.848G>A

1 paper

NM_000350.3

p.M280delFs

c.838_839delAT

1 paper

NM_000350.3

p.M280R

c.839T>G

3 papers

NM_000350.3

p.M280T

c.839T>C

2 papers

NM_000350.3

p.I284fs

c.850_851fs

1 paper

NM_000350.3

p.M280fs

c.838_839fs