Varaico: Literature-Extracted Genetic Variants

Gene:TPM1

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
1–12 of 535 variants
227 papers
NM_001018005.2
p.D175N
c.523G>A
162 papers
NM_001018005.2
p.E180G
c.539A>G
86 papers
NM_001018005.2
p.E54K
c.160G>A
74 papers
NM_001018005.2
p.E40K
c.118G>A
56 papers
NM_001018005.2
p.E192K
c.574G>A
54 papers
NM_001018005.2
p.D230N
c.688G>A
49 papers
NM_001018005.2
p.A63V
c.188C>T
48 papers
NM_001018005.2
p.V95A
c.284T>C
45 papers
NM_001018005.2
p.E62Q
c.184G>C
42 papers
NM_001018005.2
p.K70T
c.209A>C
41 papers
NM_001018005.2
p.M281T
c.842T>C
31 papers
NM_001018005.2
p.L185R
c.554T>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."