Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.L345P

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.L345P
c.1034T>C
Surrounding Variants
1 paper
NM_024536.6
p.E344E
c.1032A>G
1 paper
NM_024536.6
p.L336L
c.1006C>T
1 paper
NM_024536.6
p.L336V
c.1006C>G
1 paper
NM_024536.6
p.P330S
c.988C>T
1 paper
NM_024536.6
p.R328H
c.983G>A
1 paper
NM_024536.6
p.R328C
c.982C>T
1 paper
NM_024536.6
p.V327M
c.979G>A
1 paper
NM_024536.6
p.H325H
c.975C>T
1 paper
NM_024536.6
p.R319*
c.955C>T
1 paper
NM_024536.6
p.E313K
c.937G>A
1 paper
NM_024536.6
p.G308_E309del2
c.922_926del6
1 paper
NM_024536.6
p.Q356_W357Splc
c.1068+144G>C
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