Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q111H

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.Q111H
c.333G>T
Surrounding Variants
3 papers
NM_001018005.2
p.Q111H
c.333G>C
1 paper
NM_001018005.2
p.Q111E
c.331C>G
1 paper
NM_001018005.2
p.K112N
c.336G>T
12 papers
NM_001018005.2
p.L113V
c.337C>G
4 papers
NM_001018005.2
p.E114Q
c.340G>C
5 papers
NM_001018005.2
p.E114G
c.341A>G
1 paper
NM_001018005.2
p.A109T
c.325G>A
4 papers
NM_001018005.2
p.E115K
c.343G>A
1 paper
NM_001018008.2
p.T72A
c.214A>G
1 paper
NM_001018005.2
p.T108delFs
c.323delC
1 paper
NM_001018005.2
p.A116D
c.347C>A
7 papers
NM_001018005.2
p.A107T
c.319G>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."