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

2 papers

NM_000350.3

p.S1789R

c.5367C>A

Surrounding Variants

2 papers

NM_000350.3

p.S1789R

c.5367C>G

2 papers

NM_000350.3

p.S1789R

c.5365A>C

5 papers

NM_000350.3

p.P1788L

c.5363C>T

1 paper

NM_000350.3

p.A1791fs

c.5371_5372fs

2 papers

NM_000350.3

p.A1791insFs

c.5371dupG

6 papers

NM_000350.3

p.V1793M

c.5377G>A

9 papers

NM_000350.3

p.A1794P

c.5380G>C

31 papers

NM_000350.3

p.A1794D

c.5381C>A

6 papers

NM_000350.3

p.L1784R

c.5351T>G

3 papers

NM_000350.3

p.L1795V

c.5383T>G

4 papers

NM_000350.3

p.L1784P

c.5351T>C

3 papers

NM_000350.3

p.L1795*

c.5384T>G