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

4 papers

NM_000350.3

p.P1484S

c.4450C>T

Surrounding Variants

1 paper

NM_000350.3

p.P1484P

c.4452T>C

2 papers

NM_000350.3

p.S1485L

c.4454C>T

2 papers

NM_000350.3

p.V1482V

c.4446C>A

1 paper

NM_000350.3

p.V1482fs

c.4444_4445fs

1 paper

NM_000350.3

p.Q1481insFs

c.4442dupA

59 papers

NM_000350.3

p.P1486L

c.4457C>T

4 papers

NM_000350.3

p.P1486delFs

c.4458delT

4 papers

NM_000350.3

p.S1487fs

c.4459_4460fs

68 papers

NM_000350.3

p.C1488R

c.4462T>C

9 papers

NM_000350.3

p.C1488F

c.4463G>T

17 papers

NM_000350.3

p.C1488Y

c.4463G>A

16 papers

NM_000350.3

p.W1479*

c.4437G>A