Varaico: Literature-Extracted Genetic Variants

Gene:TNMD
Variant:p.D179E

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
4 papers
NM_022144.3
p.D179E
c.537T>G
Surrounding Variants
4 papers
NM_022144.3
p.D179E
c.537T>A
3 papers
NM_022144.3
p.D179G
c.536A>G
9 papers
NM_022144.3
p.D179N
c.535G>A
5 papers
NM_022144.3
p.D179Y
c.535G>T
1 paper
NM_022144.3
p.M183T
c.548T>C
1 paper
NM_022144.3
p.Y184N
c.550T>A
2 papers
NM_022144.3
p.L169P
c.506T>C
1 paper
NM_022144.3
p.L169F
c.505C>T
1 paper
NM_022144.3
p.P162T
c.484C>A
1 paper
NM_022144.3
p.P158T
c.472C>A
1 paper
NM_022144.3
p.T146S
c.437C>G
1 paper
NM_022144.3
p.E143G
c.428A>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."