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.D1061delFs

c.3181delC

Surrounding Variants

1 paper

NM_000350.3

p.D1061fs

c.3181_3182fs

1 paper

NM_000350.3

p.Q1060delFs

c.3178_3179delTG

1 paper

NM_000350.3

p.L1062I

c.3184C>A

3 papers

NM_000350.3

p.Q1060P

c.3179A>C

4 papers

NM_000350.3

p.Q1060*

c.3178C>T

1 paper

NM_000350.3

p.S1063_G1064ins3

c.3187_3191ins9

4 papers

NM_000350.3

p.S1063P

c.3187T>C

1 paper

NM_000350.3

p.S1063*

c.3188C>G

2 papers

NM_000350.3

p.S1063*

c.3188C>A

2 papers

NM_000350.3

p.S1063delFs

c.3187_3188delGA

2 papers

NM_000350.3

p.E1058_S1063delins

c.3173_3189delinsGTTGT

2 papers

NM_000350.3

p.G1064R

c.3190G>C