Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.Q697R

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.Q697R
c.2090A>G
Surrounding Variants
1 paper
NM_024536.6
p.E698G
c.2093A>G
1 paper
NM_024536.6
p.A686V
c.2057C>T
1 paper
NM_024536.6
p.R721W
c.2161C>T
1 paper
NM_024536.6
p.A722P
c.2164G>C
1 paper
NM_024536.6
p.A726_L727del2
c.2176_2180del6
1 paper
NM_024536.6
p.F644L
c.1932C>G
1 paper
NM_024536.6
p.F644L
c.1932C>A
1 paper
NM_024536.6
p.F644L
c.1930T>C
1 paper
NM_024536.6
p.Q637*
c.1909C>T
2 papers
NM_024536.6
p.R629C
c.1885C>T
1 paper
NM_024536.6
p.A614T
c.1840G>A
1 paper
NM_024536.6
p.P606P
c.1818G>A
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