Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.T199A

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
1 paper
NM_001018005.2
p.T199A
c.595A>G
Surrounding Variants
1 paper
NM_001018005.2
p.K198N
c.594A>C
1 paper
NM_001018005.2
p.K198N
c.594A>T
1 paper
NM_001018005.2
p.V200L
c.598G>C
1 paper
NM_001018005.2
p.V200L
c.598G>T
9 papers
NM_001018005.2
p.T201M
c.602C>T
1 paper
NM_001018005.2
p.E196K
c.586G>A
2 papers
NM_001018005.2
p.N202S
c.605A>G
6 papers
NM_001018005.2
p.N202K
c.606C>A
6 papers
NM_001018005.2
p.N202K
c.606C>G
1 paper
NM_001018005.2
p.E195K
c.583G>A
1 paper
NM_001018005.2
p.N203K
c.609C>A
1 paper
NM_001018005.2
p.N203K
c.609C>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."