Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q210R

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
6 papers
NM_001018005.2
p.Q210R
c.629A>G
Surrounding Variants
1 paper
NM_001018005.2
p.Q210E
c.628C>G
2 papers
NM_001018005.2
p.Q210*
c.628C>T
1 paper
NM_001018005.2
p.A211T
c.631G>A
5 papers
NM_001018005.2
p.A211G
c.632C>G
1 paper
NM_001018005.2
p.A211V
c.632C>T
1 paper
NM_001018005.2
p.E212G
c.635A>G
3 papers
NM_001018005.2
p.E212V
c.635A>T
2 papers
NM_001018005.2
p.K213Q
c.637A>C
1 paper
NM_001018005.2
p.S206S
c.618A>G
1 paper
NM_001018005.2
p.S206L
c.617C>T
2 papers
NM_001018005.2
p.K205R
c.614A>G
1 paper
NM_001018005.2
p.K213_Y214Splc
c.639+5G>A
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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."