Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.C246F

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
1 paper
NM_019015.3
p.C246F
c.737G>T
Surrounding Variants
1 paper
NM_019015.3
p.R247L
c.740G>T
1 paper
NM_019015.3
p.G248R
c.742G>A
1 paper
NM_019015.3
p.G248R
c.742G>C
1 paper
NM_019015.3
p.R254H
c.761G>A
1 paper
NM_019015.3
p.I264T
c.791T>C
1 paper
NM_019015.3
p.G268S
c.802G>A
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.R191C
c.571C>T
1 paper
NM_019015.3
p.D184A
c.551A>C
1 paper
NM_019015.3
p.D183V
c.548A>T
1 paper
NM_019015.3
p.F171L
c.513T>A
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