Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.R460Q

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.R460Q
c.1379G>A
Surrounding Variants
1 paper
NM_019015.3
p.L462P
c.1385T>C
1 paper
NM_019015.3
p.A463V
c.1388C>T
1 paper
NM_019015.3
p.R464C
c.1390C>T
1 paper
NM_019015.3
p.R456C
c.1366C>T
2 papers
NM_019015.3
p.A486V
c.1457C>T
2 papers
NM_019015.3
p.R434W
c.1300C>T
1 paper
NM_019015.3
p.R488*
c.1462C>T
1 paper
NM_019015.3
p.V492M
c.1474G>A
1 paper
NM_019015.3
p.P494S
c.1480C>T
1 paper
NM_019015.3
p.R423C
c.1267C>T
1 paper
NM_019015.3
p.R417C
c.1249C>T
1 paper
NM_019015.3
p.N415S
c.1244A>G
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