Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.A103delFs

CHPF

73 papers

Pfam Domains

CHGNaa 262–762UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin polymerizing factor

HGNC Alias Symbols

CSS2; CHSY2; CHPF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024536.6
p.A103delFs
c.308_309delGG
Surrounding Variants
1 paper
NM_024536.6
p.H92ins7
c.275_276ins21
1 paper
NM_024536.6
p.G79R
c.235G>C
1 paper
NM_024536.6
p.E78K
c.232G>A
1 paper
NM_024536.6
p.G77V
c.230G>T
1 paper
NM_024536.6
p.G77D
c.230G>A
1 paper
NM_024536.6
p.G77S
c.229G>A
1 paper
NM_024536.6
p.A76A
c.228C>A
1 paper
NM_024536.6
p.V34L
c.100G>T
1 paper
NM_024536.6
p.V34L
c.100G>C
1 paper
NM_024536.6
p.R105Splc
c.314+211T>C
1 paper
NM_024536.6
p.A17_T25insFs
c.51_73dup23
1 paper
NM_024536.6
p.G19G
c.57C>A
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