Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2

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
1–12 of 82 variants
4 papers
NM_019015.3
p.V621V
c.1863C>T
2 papers
NM_019015.3
p.S273*
c.818C>A
2 papers
NM_019015.3
p.S273*
c.818C>G
2 papers
NM_019015.3
p.N288Y
c.862A>T
2 papers
NM_019015.3
p.R434W
c.1300C>T
2 papers
NM_019015.3
p.A486V
c.1457C>T
2 papers
NM_019015.3
p.A570V
c.1709C>T
2 papers
NM_019015.3
p.V704G
c.2111T>G
1 paper
NM_019015.3
p.L14F
c.40C>T
1 paper
NM_019015.3
p.W33S
c.98G>C
1 paper
NM_019015.3
p.G36V
c.107G>T
1 paper
NM_019015.3
p.E37G
c.110A>G
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