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.K429insFs

c.1287dupA

Surrounding Variants

2 papers

NM_000350.3

p.A430D

c.1289C>A

1 paper

NM_000350.3

p.K429T

c.1286A>C

2 papers

NM_000350.3

p.A430insFs

c.1290dupC

1 paper

NM_000350.3

p.W431fs

c.1291_1292fs

1 paper

NM_000350.3

p.W431L

c.1292G>T

10 papers

NM_000350.3

p.W431*

c.1292G>A

1 paper

NM_000350.3

p.L427_V428del1

c.1280_1282delCCA

1 paper

NM_000350.3

p.V428G

c.1283T>G

3 papers

NM_000350.3

p.V428D

c.1283T>A

1 paper

NM_000350.3

p.V428delFs

c.1282delC

5 papers

NM_000350.3

p.W431C

c.1293G>T

1 paper

NM_000350.3

p.W431fs

c.1291_1292fs