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.I1684fs

c.5050_5051fs

Surrounding Variants

5 papers

NM_000350.3

p.I1684N

c.5051T>A

3 papers

NM_000350.3

p.I1684delFs

c.5050delT

18 papers

NM_000350.3

p.V1686M

c.5056G>A

2 papers

NM_000350.3

p.C1685del1

c.5053_5054delGCA

1 paper

NM_000350.3

p.V1686G

c.5057T>G

3 papers

NM_000350.3

p.I1687fs

c.5059_5060fs

9 papers

NM_000350.3

p.I1687F

c.5059A>T

2 papers

NM_000350.3

p.I1687V

c.5059A>G

4 papers

NM_000350.3

p.V1686del1

c.5056_5057delCAC

34 papers

NM_000350.3

p.V1682_V1686del0

c.5044_5058del15

4 papers

NM_000350.3

p.I1687delFs

c.5059delT

1 paper

NM_000350.3

p.I1687fs

c.5059_5060fs