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

2 papers

NM_000350.3

p.S206fs

c.616_617fs

Surrounding Variants

1 paper

NM_000350.3

p.S206G

c.616A>G

15 papers

NM_000350.3

p.S206R

c.616A>C

1 paper

NM_000350.3

p.S206insFs

c.616dupA

1 paper

NM_000350.3

p.C205insFs

c.614_615insG

3 papers

NM_000350.3

p.C205Fs

c.615delinsAGCFs

3 papers

NM_000350.3

p.C205F

c.614G>T

3 papers

NM_000350.3

p.C205Y

c.614G>A

4 papers

NM_000350.3

p.S206S

c.618C>T

15 papers

NM_000350.3

p.S206R

c.618C>G

1 paper

NM_000350.3

p.S206_E207insFs

c.618_619ins8

1 paper

NM_000350.3

p.S206_E207ins6

c.618_619ins18

15 papers

NM_000350.3

p.S206R

c.618C>A