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.L35*

c.104T>A

Surrounding Variants

2 papers

NM_000350.3

p.L35L

c.105A>G

1 paper

NM_000350.3

p.L35delFs

c.103delA

1 paper

NM_000350.3

p.L35fs

c.103_104fs

24 papers

NM_000350.3

p.S34_F36del0

c.101_106del6

1 paper

NM_000350.3

p.W31_L35del5

c.91_104del15

2 papers

NM_000350.3

p.S34C

c.101C>G

1 paper

NM_000350.3

p.F36fs

c.106_107fs

1 paper

NM_000350.3

p.S34A

c.100T>G

1 paper

NM_000350.3

p.S34T

c.100T>A

3 papers

NM_000350.3

p.L35del1

c.103_104delTAA

4 papers

NM_000350.3

p.L37fs

c.109_110fs

1 paper

NM_000350.3

p.L37L

c.109C>T