Varaico: Literature-Extracted Genetic Variants

Gene:CFAP210
Variant:p.Y129H

CFAP210

40 papers

Pfam Domains

TPHaa 145–490UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 210

HGNC Previous Symbols

C2orf77; CCDC173

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001085447.2
p.Y129H
c.385T>C
Surrounding Variants
1 paper
NM_001085447.2
p.E116*
c.346G>T
1 paper
NM_001085447.2
p.E114Q
c.340G>C
1 paper
NM_001085447.2
p.E150Q
c.448G>C
1 paper
NM_001085447.2
p.M165T
c.494T>C
2 papers
NM_001085447.2
p.R168H
c.503G>A
1 paper
NM_001085447.2
p.L214F
c.640C>T
1 paper
NM_001085447.2
p.T94A
c.280A>G
1 paper
NM_001085447.2
p.S86F
c.257C>T
1 paper
NM_001085447.2
p.E81*
c.241G>T
1 paper
NM_001085447.2
p.R73C
c.217C>T
1 paper
NM_001085447.2
p.P39L
c.116C>T
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