Varaico: Literature-Extracted Genetic Variants

Gene:TNMD
Variant:p.S70C

TNMD

155 papers

RefSeq Summary

This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial ...

Pfam Domains

BRICHOSaa 95–185UCSCBRICHOS domain

Gene Aliases

HGNC Name

tenomodulin

HGNC Alias Symbols

myodulin; ChM1L; tendin; TEM; BRICD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022144.3
p.S70C
c.208A>T
Surrounding Variants
1 paper
NM_022144.3
p.S70R
c.208A>C
3 papers
NM_022144.3
p.S70G
c.208A>G
1 paper
NM_022144.3
p.S70R
c.210C>A
1 paper
NM_022144.3
p.S70R
c.210C>G
1 paper
NM_022144.3
p.G72R
c.214G>A
1 paper
NM_022144.3
p.E73E
c.219G>A
1 paper
NM_022144.3
p.K76E
c.226A>G
2 papers
NM_022144.3
p.K76M
c.227A>T
2 papers
NM_022144.3
p.E80K
c.238G>A
1 paper
NM_022144.3
p.E80Q
c.238G>C
1 paper
NM_022144.3
p.E80V
c.239A>T
1 paper
NM_022144.3
p.I81S
c.242T>G
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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."