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.D155insFs

c.463dupG

Surrounding Variants

1 paper

NM_000350.3

p.D155V

c.464A>T

1 paper

NM_000350.3

p.R154delFs

c.461delC

1 paper

NM_000350.3

p.R154_D155Fs

c.461_464delinsTGGTCTFs

1 paper

NM_000350.3

p.R154_D155del1

c.461_463delCCC

1 paper

NM_000350.3

p.D155N

c.463G>A

1 paper

NM_000350.3

p.R154S

c.462G>C

1 paper

NM_000350.3

p.I156F

c.466A>T

45 papers

NM_000350.3

p.I156V

c.466A>G

2 papers

NM_000350.3

p.I156I

c.468C>T

1 paper

NM_000350.3

p.I156insFs

c.466_467dupAT

1 paper

NM_000350.3

p.I156delFs

c.468delG

1 paper

NM_000350.3

p.D155_I156del2

c.463_467del6