Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E180*

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
2 papers
NM_001018005.2
p.E180*
c.538G>T
Surrounding Variants
2 papers
NM_001018005.2
p.E180Q
c.538G>C
162 papers
NM_001018005.2
p.E180G
c.539A>G
27 papers
NM_001018005.2
p.E180V
c.539A>T
6 papers
NM_001018005.2
p.E181K
c.541G>A
2 papers
NM_001018005.2
p.A179S
c.535G>T
12 papers
NM_001018005.2
p.R178H
c.533G>A
1 paper
NM_001018005.2
p.A183G
c.548C>G
10 papers
NM_001018005.2
p.A183V
c.548C>T
2 papers
NM_001018005.2
p.E184Q
c.550G>C
2 papers
NM_001018005.2
p.D175E
c.525C>A
2 papers
NM_001018005.2
p.D175E
c.525C>G
1 paper
NM_001018005.2
p.D175A
c.524A>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."