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

10 papers

NM_000350.3

p.P68R

c.203C>G

Surrounding Variants

24 papers

NM_000350.3

p.P68L

c.203C>T

2 papers

NM_000350.3

p.P68Q

c.203C>A

1 paper

NM_000350.3

p.P68S

c.202C>T

2 papers

NM_000350.3

p.W69R

c.205T>C

2 papers

NM_000350.3

p.W69R

c.205T>A

1 paper

NM_000350.3

p.P68delFs

c.204delC

1 paper

NM_000350.3

p.L67R

c.200T>G

11 papers

NM_000350.3

p.W69*

c.206G>A

10 papers

NM_000350.3

p.W69*

c.207G>A

1 paper

NM_000350.3

p.L67fs

c.199_200fs

1 paper

NM_000350.3

p.G65_M66del2

c.193_197del6

1 paper

NM_000350.3

p.M66I

c.198G>T