Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.A120V

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
4 papers
NM_001018005.2
p.A120V
c.359C>T
Surrounding Variants
1 paper
NM_001018005.2
p.D121_E122insFs
c.363_364ins7
2 papers
NM_001018005.2
p.A119T
c.355G>A
2 papers
NM_001018005.2
p.E122K
c.364G>A
1 paper
NM_001018005.2
p.K118delFs
c.352delA
2 papers
NM_001018005.2
p.S123N
c.368G>A
4 papers
NM_001018005.2
p.S123T
c.368G>C
11 papers
NM_001018005.2
p.E117K
c.349G>A
1 paper
NM_001018005.2
p.S123R
c.369T>A
1 paper
NM_001018005.2
p.E124K
c.370G>A
1 paper
NM_001018005.2
p.A116D
c.347C>A
4 papers
NM_001018005.2
p.E115K
c.343G>A
5 papers
NM_001018005.2
p.E114G
c.341A>G
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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."