Varaico: Literature-Extracted Genetic Variants

Gene:CHPF

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
1–12 of 78 variants
2 papers
NM_024536.6
p.G245R
c.733G>A
2 papers
NM_024536.6
p.Q371R
c.1112A>G
2 papers
NM_024536.6
p.D407N
c.1219G>A
2 papers
NM_024536.6
p.R415H
c.1244G>A
2 papers
NM_024536.6
p.Q475*
c.1423C>T
2 papers
NM_024536.6
p.R629C
c.1885C>T
1 paper
NM_024536.6
p.M1I
c.3G>T
1 paper
NM_024536.6
p.M1I
c.3G>C
1 paper
NM_024536.6
p.M1I
c.3G>A
1 paper
NM_024536.6
p.G14R
c.40G>C
1 paper
NM_024536.6
p.G14R
c.40G>A
1 paper
NM_024536.6
p.G19G
c.57C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."