Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.Q371R

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
2 papers
NM_024536.6
p.Q371R
c.1112A>G
Surrounding Variants
1 paper
NM_024536.6
p.Q371*
c.1111C>T
1 paper
NM_024536.6
p.Q356_W357Splc
c.1069-2A>C
1 paper
NM_024536.6
p.H401H
c.1203C>T
2 papers
NM_024536.6
p.D407N
c.1219G>A
2 papers
NM_024536.6
p.R415H
c.1244G>A
1 paper
NM_024536.6
p.G416W
c.1246G>T
1 paper
NM_024536.6
p.G427R
c.1279G>A
1 paper
NM_024536.6
p.T428R
c.1283C>G
1 paper
NM_024536.6
p.Q356_W357Splc
c.1068+144G>C
1 paper
NM_024536.6
p.P457L
c.1370C>T
2 papers
NM_024536.6
p.Q475*
c.1423C>T
1 paper
NM_024536.6
p.P498S
c.1492C>T
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