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

3 papers

NM_000350.3

p.G435V

c.1304G>T

Surrounding Variants

1 paper

NM_000350.3

p.G435W

c.1303G>T

6 papers

NM_000350.3

p.V434delFs

c.1302delT

1 paper

NM_000350.3

p.P436S

c.1306C>T

1 paper

NM_000350.3

p.A430_G435del6

c.1288_1304del18

2 papers

NM_000350.3

p.V434G

c.1301T>G

1 paper

NM_000350.3

p.E433_P436insFs

c.1299_1306dup8

11 papers

NM_000350.3

p.Q437fs

c.1309_1310fs

2 papers

NM_000350.3

p.Q437K

c.1309C>A

14 papers

NM_000350.3

p.E433E

c.1299A>G

1 paper

NM_000350.3

p.Q437R

c.1310A>G

1 paper

NM_000350.3

p.E433G

c.1298A>G

4 papers

NM_000350.3

p.E433A

c.1298A>C