Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E97K

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.E97K
c.289G>A
Surrounding Variants
1 paper
NM_001018005.2
p.E96D
c.288G>C
1 paper
NM_001018005.2
p.E96D
c.288G>T
1 paper
NM_001018005.2
p.E97_R101del0
c.289_303del15
1 paper
NM_001018005.2
p.E96G
c.287A>G
3 papers
NM_001018005.2
p.E98K
c.292G>A
1 paper
NM_001018005.2
p.E96K
c.286G>A
48 papers
NM_001018005.2
p.V95A
c.284T>C
3 papers
NM_001018005.2
p.L99M
c.295T>A
1 paper
NM_001018005.2
p.L99V
c.295T>G
5 papers
NM_001018005.2
p.L94P
c.281T>C
2 papers
NM_001018005.2
p.Q93H
c.279G>C
2 papers
NM_001018005.2
p.Q93H
c.279G>T
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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."