Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.R567Q

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.R567Q
c.1700G>A
Surrounding Variants
1 paper
NM_019015.3
p.A565T
c.1693G>A
2 papers
NM_019015.3
p.A570V
c.1709C>T
1 paper
NM_019015.3
p.A562V
c.1685C>T
1 paper
NM_019015.3
p.R575*
c.1723C>T
1 paper
NM_019015.3
p.R575Q
c.1724G>A
1 paper
NM_019015.3
p.A549T
c.1645G>A
1 paper
NM_019015.3
p.A548T
c.1642G>A
1 paper
NM_019015.3
p.V528D
c.1583T>A
1 paper
NM_019015.3
p.V514fs
c.1540_1541fs
1 paper
NM_019015.3
p.N513S
c.1538A>G
1 paper
NM_019015.3
p.V514_L515delFs
c.1541_1545del5
4 papers
NM_019015.3
p.V621V
c.1863C>T
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