Varaico: Literature-Extracted Genetic Variants

Gene:TNMD

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
1–12 of 92 variants
17 papers
NM_022144.3
p.E240K
c.718G>A
9 papers
NM_022144.3
p.D179N
c.535G>A
8 papers
NM_022144.3
p.E240G
c.719A>G
5 papers
NM_022144.3
p.D179Y
c.535G>T
4 papers
NM_022144.3
p.D179E
c.537T>A
4 papers
NM_022144.3
p.D179E
c.537T>G
3 papers
NM_022144.3
p.S70G
c.208A>G
3 papers
NM_022144.3
p.D179G
c.536A>G
2 papers
NM_022144.3
p.E7K
c.19G>A
2 papers
NM_022144.3
p.S70C
c.208A>T
2 papers
NM_022144.3
p.K76M
c.227A>T
2 papers
NM_022144.3
p.E80K
c.238G>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."