Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E173A

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
3 papers
NM_001018005.2
p.E173A
c.518A>C
Surrounding Variants
1 paper
NM_001018005.2
p.E173D
c.519G>C
1 paper
NM_001018005.2
p.E173D
c.519G>T
1 paper
NM_001018005.2
p.S174G
c.520A>G
1 paper
NM_001018005.2
p.I172N
c.515T>A
22 papers
NM_001018005.2
p.I172T
c.515T>C
1 paper
NM_001018005.2
p.I171M
c.513C>G
227 papers
NM_001018005.2
p.D175N
c.523G>A
1 paper
NM_001018005.2
p.D175A
c.524A>C
4 papers
NM_001018005.2
p.D175G
c.524A>G
1 paper
NM_001018005.2
p.I171V
c.511A>G
2 papers
NM_001018005.2
p.D175E
c.525C>A
2 papers
NM_001018005.2
p.D175E
c.525C>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."