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

71 papers

NM_000350.3

p.C2150Y

c.6449G>A

Surrounding Variants

16 papers

NM_000350.3

p.C2150R

c.6448T>C

1 paper

NM_000350.3

p.M2151V

c.6451A>G

9 papers

NM_000350.3

p.R2149L

c.6446G>T

1 paper

NM_000350.3

p.R2149P

c.6446G>C

1 paper

NM_000350.3

p.R2149Q

c.6446G>A

1 paper

NM_000350.3

p.M2151I

c.6453G>T

1 paper

NM_000350.3

p.M2151I

c.6453G>C

1 paper

NM_000350.3

p.M2151I

c.6453G>A

55 papers

NM_000350.3

p.R2149*

c.6445C>T

6 papers

NM_000350.3

p.G2152C

c.6454G>T

1 paper

NM_000350.3

p.G2152R

c.6454G>C

1 paper

NM_000350.3

p.G2152S

c.6454G>A