Varaico: Literature-Extracted Genetic Variants

Gene:CHPF2
Variant:p.V372L

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.V372L
c.1114G>C
Surrounding Variants
1 paper
NM_019015.3
p.V372L
c.1114G>T
1 paper
NM_019015.3
p.L373L
c.1117C>T
1 paper
NM_019015.3
p.R369H
c.1106G>A
1 paper
NM_019015.3
p.E349K
c.1045G>A
1 paper
NM_019015.3
p.N415S
c.1244A>G
1 paper
NM_019015.3
p.R417C
c.1249C>T
1 paper
NM_019015.3
p.R423C
c.1267C>T
2 papers
NM_019015.3
p.R434W
c.1300C>T
1 paper
NM_019015.3
p.R456C
c.1366C>T
1 paper
NM_019015.3
p.R460Q
c.1379G>A
1 paper
NM_019015.3
p.L462P
c.1385T>C
1 paper
NM_019015.3
p.A463V
c.1388C>T
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