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

9 papers

NM_000350.3

p.G1078E

c.3233G>A

Surrounding Variants

1 paper

NM_000350.3

p.G1078delFs

c.3233delC

1 paper

NM_000350.3

p.G1078fs

c.3232_3233fs

1 paper

NM_000350.3

p.D1079V

c.3236A>T

1 paper

NM_000350.3

p.A1073_D1079insFs

c.3218_3236dup19

2 papers

NM_000350.3

p.D1079D

c.3237T>C

2 papers

NM_000350.3

p.K1069_A1075del7

c.3205_3224del21

1 paper

NM_000350.3

p.K1081E

c.3241A>G

1 paper

NM_000350.3

p.A1075V

c.3224C>T

6 papers

NM_000350.3

p.A1075D

c.3224C>A

3 papers

NM_000350.3

p.K1081N

c.3243G>T

3 papers

NM_000350.3

p.K1081N

c.3243G>C

2 papers

NM_000350.3

p.K1081K

c.3243G>A