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.M1690T

c.5069T>C

Surrounding Variants

1 paper

NM_000350.3

p.M1690R

c.5069T>G

1 paper

NM_000350.3

p.S1691P

c.5071T>C

1 paper

NM_000350.3

p.S1691F

c.5072C>T

10 papers

NM_000350.3

p.S1689P

c.5065T>C

1 paper

NM_000350.3

p.S1691delFs

c.5073delG

1 paper

NM_000350.3

p.F1688insFs

c.5063dupT

1 paper

NM_000350.3

p.F1692fs

c.5074_5075fs

1 paper

NM_000350.3

p.V1682_I1687del0

c.5045_5059del15

1 paper

NM_000350.3

p.I1687fs

c.5059_5060fs

17 papers

NM_000350.3

p.V1693I

c.5077G>A

4 papers

NM_000350.3

p.I1687delFs

c.5059delT

3 papers

NM_000350.3

p.I1687fs

c.5059_5060fs