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.N933I

c.2798A>T

Surrounding Variants

1 paper

NM_000350.3

p.K932insFs

c.2796dupG

1 paper

NM_000350.3

p.K932_N933insFs

c.2796_2797insT

2 papers

NM_000350.3

p.K932R

c.2795A>G

1 paper

NM_000350.3

p.K932insFs

c.2795_2796insT

2 papers

NM_000350.3

p.V935L

c.2803G>T

2 papers

NM_000350.3

p.V935L

c.2803G>C

1 paper

NM_000350.3

p.L934_V935delins

c.2800_2803delinsT

10 papers

NM_000350.3

p.V935A

c.2804T>C

2 papers

NM_000350.3

p.V931L

c.2791G>T

2 papers

NM_000350.3

p.V931L

c.2791G>C

43 papers

NM_000350.3

p.V931M

c.2791G>A

2 papers

NM_000350.3

p.L934_V935del1

c.2802_2804delACC