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

1–12 of 6014 variants

523 papers

NM_000350.3

p.G1961E

c.5882G>A

306 papers

NM_000350.3

p.G863A

c.2588G>C

290 papers

NM_000350.3

p.A1038V

c.3113C>T

238 papers

NM_000350.3

p.L541P

c.1622T>C

230 papers

NM_000350.3

p.N1868I

c.5603A>T

229 papers

NM_000350.3

p.R1820_T1821Splc

c.5461-10T>C

179 papers

NM_000350.3

p.W1905Splc

c.5714+5G>A

170 papers

NM_000350.3

p.P1380L

c.4139C>T

159 papers

NM_000350.3

p.N965S

c.2894A>G

157 papers

NM_000350.3

p.R212C

c.634C>T

138 papers

NM_000350.3

p.L2027F

c.6079C>T

134 papers

NM_000350.3

p.R1108C

c.3322C>T