Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.N279H

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
5 papers
NM_001018005.2
p.N279H
c.835A>C
Surrounding Variants
3 papers
NM_001018005.2
p.N279K
c.837C>A
3 papers
NM_001018005.2
p.N279K
c.837C>G
1 paper
NM_001018005.2
p.L278V
c.832C>G
2 papers
NM_001018005.2
p.L278F
c.832C>T
1 paper
NM_001018005.2
p.A277G
c.830C>G
15 papers
NM_001018005.2
p.A277V
c.830C>T
13 papers
NM_001018005.2
p.M281V
c.841A>G
6 papers
NM_001018005.2
p.A277T
c.829G>A
41 papers
NM_001018005.2
p.M281T
c.842T>C
2 papers
NM_001018005.2
p.M281R
c.842T>G
1 paper
NM_001018005.2
p.M281I
c.843G>A
1 paper
NM_001018005.2
p.M281I
c.843G>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."