Varaico: Literature-Extracted Genetic Variants

Gene:TNMD
Variant:p.E18K

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.E18K
c.52G>A
Surrounding Variants
1 paper
NM_022144.3
p.F20L
c.60T>A
1 paper
NM_022144.3
p.F20F
c.60T>C
1 paper
NM_022144.3
p.C26S
c.76T>A
1 paper
NM_022144.3
p.C26S
c.77G>C
1 paper
NM_022144.3
p.K27K
c.81A>G
1 paper
NM_022144.3
p.V35M
c.103G>A
1 paper
NM_022144.3
p.P55P
c.165G>A
1 paper
NM_022144.3
p.N16Y
c.46A>T
1 paper
NM_022144.3
p.D11A
c.32A>C
1 paper
NM_022144.3
p.D11delFs
c.33delC
1 paper
NM_022144.3
p.E10*
c.28G>T
1 paper
NM_022144.3
p.E7D
c.21G>C
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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."