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.P402fs

c.1204_1205fs

Surrounding Variants

1 paper

NM_000350.3

p.P402delFs

c.1205delG

1 paper

NM_000350.3

p.D403Y

c.1207G>T

2 papers

NM_000350.3

p.D403N

c.1207G>A

1 paper

NM_000350.3

p.P402L

c.1205C>T

2 papers

NM_000350.3

p.P402S

c.1204C>T

8 papers

NM_000350.3

p.P402A

c.1204C>G

1 paper

NM_000350.3

p.P402_D403insN

c.1204_1208ins3

5 papers

NM_000350.3

p.D403V

c.1208A>T

1 paper

NM_000350.3

p.T401I

c.1202C>T

1 paper

NM_000350.3

p.T401S

c.1202C>G

1 paper

NM_000350.3

p.S404L

c.1211C>T

5 papers

NM_000350.3

p.S404*

c.1211C>G