Varaico: Literature-Extracted Genetic Variants

Gene:TNMD
Variant:p.E240G

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
8 papers
NM_022144.3
p.E240G
c.719A>G
Surrounding Variants
1 paper
NM_022144.3
p.E240A
c.719A>C
1 paper
NM_022144.3
p.E240V
c.719A>T
17 papers
NM_022144.3
p.E240K
c.718G>A
1 paper
NM_022144.3
p.Q237P
c.710A>C
1 paper
NM_022144.3
p.P244S
c.730C>T
1 paper
NM_022144.3
p.R233_H234delins
c.697_700delinsTAAC
1 paper
NM_022144.3
p.W222L
c.665G>T
1 paper
NM_022144.3
p.E217D
c.651A>C
1 paper
NM_022144.3
p.E217D
c.651A>T
1 paper
NM_022144.3
p.E217A
c.650A>C
1 paper
NM_022144.3
p.E212A
c.635A>C
1 paper
NM_022144.3
p.L206H
c.617T>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."