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

68 papers

NM_000350.3

p.C1488R

c.4462T>C

Surrounding Variants

9 papers

NM_000350.3

p.C1488F

c.4463G>T

17 papers

NM_000350.3

p.C1488Y

c.4463G>A

1 paper

NM_000350.3

p.C1488*

c.4464C>A

4 papers

NM_000350.3

p.P1486delFs

c.4458delT

4 papers

NM_000350.3

p.S1487fs

c.4459_4460fs

2 papers

NM_000350.3

p.R1489K

c.4466G>A

4 papers

NM_000350.3

p.R1489S

c.4467G>T

4 papers

NM_000350.3

p.R1489S

c.4467G>C

59 papers

NM_000350.3

p.P1486L

c.4457C>T

1 paper

NM_000350.3

p.C1490G

c.4468T>G

7 papers

NM_000350.3

p.C1490R

c.4468T>C

1 paper

NM_000350.3

p.C1490S

c.4468T>A