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.D197Y

c.589G>T

Surrounding Variants

1 paper

NM_000350.3

p.D197H

c.589G>C

1 paper

NM_000350.3

p.D197N

c.589G>A

1 paper

NM_000350.3

p.P196P

c.588G>T

1 paper

NM_000350.3

p.P196P

c.588G>C

1 paper

NM_000350.3

p.D197A

c.590A>C

8 papers

NM_000350.3

p.P196L

c.587C>T

1 paper

NM_000350.3

p.P196Q

c.587C>A

1 paper

NM_000350.3

p.D197delFs

c.590delT

1 paper

NM_000350.3

p.L198L

c.592C>T

1 paper

NM_000350.3

p.L198P

c.593T>C

1 paper

NM_000350.3

p.L198Q

c.593T>A

4 papers

NM_000350.3

p.V195V

c.585C>T