Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D230N

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
54 papers
NM_001018005.2
p.D230N
c.688G>A
Surrounding Variants
1 paper
NM_001018005.2
p.S229S
c.687C>T
3 papers
NM_001018005.2
p.S229F
c.686C>T
4 papers
NM_001018005.2
p.L232R
c.695T>G
1 paper
NM_001018005.2
p.K233E
c.697A>G
1 paper
NM_001018005.2
p.K226K
c.678G>A
3 papers
NM_001018005.2
p.K226R
c.677A>G
3 papers
NM_001018005.2
p.K233N
c.699G>C
3 papers
NM_001018005.2
p.K233N
c.699G>T
3 papers
NM_001018005.2
p.K226Q
c.676A>C
1 paper
NM_001018005.2
p.E234K
c.700G>A
1 paper
NM_001018005.2
p.I225V
c.673A>G
1 paper
NM_001018005.2
p.E234_A235Splc
c.702+1G>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."