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.L1147delFs

c.3439delG

Surrounding Variants

2 papers

NM_000350.3

p.F1146L

c.3438C>G

2 papers

NM_000350.3

p.F1146L

c.3438C>A

3 papers

NM_000350.3

p.K1148T

c.3443A>C

2 papers

NM_000350.3

p.F1146L

c.3436T>C

1 paper

NM_000350.3

p.L1145L

c.3435C>T

1 paper

NM_000350.3

p.L1145R

c.3434T>G

3 papers

NM_000350.3

p.L1145H

c.3434T>A

1 paper

NM_000350.3

p.L1145fs

c.3433_3434fs

2 papers

NM_000350.3

p.P1144insFs

c.3431dupC

2 papers

NM_000350.3

p.P1144delFs

c.3431delG

7 papers

NM_000350.3

p.C1150Y

c.3449G>A

1 paper

NM_000350.3

p.P1144A

c.3430C>G