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.K391N

c.1173G>T

Surrounding Variants

1 paper

NM_000350.3

p.K391fs

c.1171_1172fs

1 paper

NM_000350.3

p.K391N

c.1173G>C

2 papers

NM_000350.3

p.K391delFs

c.1172delT

1 paper

NM_000350.3

p.K391fs

c.1171_1172fs

1 paper

NM_000350.3

p.P392H

c.1175C>A

1 paper

NM_000350.3

p.T383_P392del10

c.1147_1175del30

1 paper

NM_000350.3

p.A390V

c.1169C>T

1 paper

NM_000350.3

p.A389V

c.1166C>T

1 paper

NM_000350.3

p.L394_M395ins4

c.1180_1184ins12

2 papers

NM_000350.3

p.A389E

c.1166C>A

1 paper

NM_000350.3

p.L394Q

c.1181T>A

1 paper

NM_000350.3

p.A389T

c.1165G>A