Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.F171L

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.F171L
c.511T>C
Surrounding Variants
1 paper
NM_019015.3
p.F171L
c.513T>A
1 paper
NM_019015.3
p.F171L
c.513T>G
1 paper
NM_019015.3
p.L167F
c.499C>T
1 paper
NM_019015.3
p.D183V
c.548A>T
1 paper
NM_019015.3
p.D184A
c.551A>C
1 paper
NM_019015.3
p.R191C
c.571C>T
1 paper
NM_019015.3
p.M146I
c.438G>A
1 paper
NM_019015.3
p.M146I
c.438G>C
1 paper
NM_019015.3
p.M146I
c.438G>T
1 paper
NM_019015.3
p.R141W
c.421C>T
1 paper
NM_019015.3
p.A117V
c.350C>T
1 paper
NM_019015.3
p.R110Q
c.329G>A
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