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.A45insFs

c.134_135ins4

Surrounding Variants

1 paper

NM_000350.3

p.A45D

c.134C>A

1 paper

NM_000350.3

p.R43_A45del0

c.129_134del6

1 paper

NM_000350.3

p.N46fs

c.136_137fs

1 paper

NM_000350.3

p.N46D

c.136A>G

1 paper

NM_000350.3

p.N46S

c.137A>G

1 paper

NM_000350.3

p.N46N

c.138C>T

1 paper

NM_000350.3

p.N46insFs

c.137dupA

1 paper

NM_000350.3

p.R43S

c.129G>T

1 paper

NM_000350.3

p.R43S

c.129G>C

1 paper

NM_000350.3

p.R43R

c.129G>A

2 papers

NM_000350.3

p.P47S

c.139C>T

3 papers

NM_000350.3

p.V38_N46del9

c.112_137del27