Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.R167H

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
16 papers
NM_001018005.2
p.R167H
c.500G>A
Surrounding Variants
4 papers
NM_001018005.2
p.R167G
c.499C>G
4 papers
NM_001018005.2
p.R167C
c.499C>T
11 papers
NM_001018005.2
p.K168E
c.502A>G
1 paper
NM_001018005.2
p.A166V
c.497C>T
2 papers
NM_001018005.2
p.A166T
c.496G>A
1 paper
NM_001018005.2
p.L169V
c.505C>G
1 paper
NM_001018005.2
p.V165V
c.495G>C
1 paper
NM_001018005.2
p.I171V
c.511A>G
1 paper
NM_001018005.2
p.I171M
c.513C>G
1 paper
NM_001018005.2
p.I172N
c.515T>A
22 papers
NM_001018005.2
p.I172T
c.515T>C
3 papers
NM_001018005.2
p.E173A
c.518A>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."