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.I975T

c.2924T>C

Surrounding Variants

3 papers

NM_000350.3

p.I975ins4

c.2923_2924ins12

6 papers

NM_000350.3

p.I975M

c.2925C>G

1 paper

NM_000350.3

p.I975fs

c.2923_2924fs

1 paper

NM_000350.3

p.L976fs

c.2926_2927fs

1 paper

NM_000350.3

p.L976L

c.2926C>T

1 paper

NM_000350.3

p.S974fs

c.2920_2921fs

1 paper

NM_000350.3

p.L973_S974insFs

c.2919_2920ins11

2 papers

NM_000350.3

p.S974P

c.2920T>C

3 papers

NM_000350.3

p.L973delFs

c.2919delC

1 paper

NM_000350.3

p.L976fs

c.2926_2927fs

2 papers

NM_000350.3

p.L976delFs

c.2927delA

7 papers

NM_000350.3

p.S974fs

c.2920_2921fs