Varaico: Literature-Extracted Genetic Variants

Gene:C4orf50
Variant:p.G596R

C4orf50

18 papers

Pfam Domains

DUF4527aa 1233–1506UCSCProtein of unknown function (DUF4527)

Gene Aliases

HGNC Name

chromosome 4 open reading frame 50

HGNC Alias Symbol

FLJ46481

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001364689.3
p.G596R
c.1786G>C
Surrounding Variants
1 paper
NM_001364689.3
p.G618G
c.1854G>A
1 paper
NM_001364689.3
p.Q629_G630del2
c.1885_1889del6
1 paper
NM_001364689.3
p.L555V
c.1663C>G
1 paper
NM_001364689.3
p.S661*
c.1982C>G
1 paper
NM_001364689.3
p.G508*
c.1522G>T
1 paper
NM_001364689.3
p.A690T
c.2068G>A
1 paper
NM_001364689.3
p.K491_I492delins
c.1471_1475delinsCAAAC
1 paper
NM_001364689.3
p.L432F
c.1296G>C
1 paper
NM_001364689.3
p.E430A
c.1289A>C
1 paper
NM_001364689.3
p.E429D
c.1287G>T
1 paper
NM_001364689.3
p.E429D
c.1287G>C
1 paper
NM_001364689.3
p.L410Q
c.1229T>A
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