Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.N288Y

CHPF2

73 papers

Pfam Domains

Fringeaa 101–286UCSCFringe-like
CHGNaa 273–698UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin polymerizing factor 2

HGNC Alias Symbols

KIAA1402; ChSy-3; CSGlcA-T

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019015.3
p.N288Y
c.862A>T
Surrounding Variants
1 paper
NM_019015.3
p.E294K
c.880G>A
1 paper
NM_019015.3
p.R281C
c.841C>T
1 paper
NM_019015.3
p.Q279K
c.835C>A
1 paper
NM_019015.3
p.F303F
c.909C>T
1 paper
NM_019015.3
p.V305M
c.913G>A
1 paper
NM_019015.3
p.V305fs
c.913_914fs
1 paper
NM_019015.3
p.V305delFs
c.914delT
2 papers
NM_019015.3
p.S273*
c.818C>A
2 papers
NM_019015.3
p.S273*
c.818C>G
1 paper
NM_019015.3
p.G268S
c.802G>A
1 paper
NM_019015.3
p.I264T
c.791T>C
1 paper
NM_019015.3
p.R254H
c.761G>A
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