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.M395I

c.1185G>A

Surrounding Variants

1 paper

NM_000350.3

p.M395I

c.1185G>T

1 paper

NM_000350.3

p.M395I

c.1185G>C

1 paper

NM_000350.3

p.L394Q

c.1181T>A

1 paper

NM_000350.3

p.L394_M395ins4

c.1180_1184ins12

1 paper

NM_000350.3

p.K397I

c.1190A>T

1 paper

NM_000350.3

p.I398V

c.1192A>G

1 paper

NM_000350.3

p.T383_P392del10

c.1147_1175del30

1 paper

NM_000350.3

p.G396_K397delFs

c.1188_1191del4

1 paper

NM_000350.3

p.L399fs

c.1195_1196fs

1 paper

NM_000350.3

p.L399V

c.1195C>G

1 paper

NM_000350.3

p.P392H

c.1175C>A

1 paper

NM_000350.3

p.L399P

c.1196T>C