Varaico: Literature-Extracted Genetic Variants

Gene:TNMD
Variant:p.E204Q

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
1 paper
NM_022144.3
p.E204Q
c.610G>C
Surrounding Variants
1 paper
NM_022144.3
p.E204K
c.610G>A
1 paper
NM_022144.3
p.E204G
c.611A>G
1 paper
NM_022144.3
p.L206I
c.616C>A
1 paper
NM_022144.3
p.L206H
c.617T>A
1 paper
NM_022144.3
p.E212A
c.635A>C
1 paper
NM_022144.3
p.E217A
c.650A>C
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.W222L
c.665G>T
1 paper
NM_022144.3
p.R233_H234delins
c.697_700delinsTAAC
1 paper
NM_022144.3
p.Q237P
c.710A>C
17 papers
NM_022144.3
p.E240K
c.718G>A
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