Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.K268N

TPM1

889 papers

RefSeq Summary

This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of...

Pfam Domains

Tropomyosinaa 66–284UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 1

HGNC Previous Symbols

C15orf13; CMH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018005.2
p.K268N
c.804A>C
Surrounding Variants
1 paper
NM_001018005.2
p.K268N
c.804A>T
1 paper
NM_001018005.2
p.K268R
c.803A>G
1 paper
NM_001018005.2
p.I270_S271del1
c.809_811delTCA
1 paper
NM_001018005.2
p.I270V
c.808A>G
1 paper
NM_001018005.2
p.I270delFs
c.810delC
4 papers
NM_001018005.2
p.K266R
c.797A>G
1 paper
NM_001018005.2
p.K266M
c.797A>T
3 papers
NM_001018005.2
p.E272K
c.814G>A
3 papers
NM_001018005.2
p.E272G
c.815A>G
1 paper
NM_001018005.2
p.L265M
c.793C>A
3 papers
NM_001018005.2
p.K264R
c.791A>G
1 paper
NM_001018005.2
p.E273K
c.817G>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."