Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.K226Q

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.K226Q
c.676A>C
Surrounding Variants
3 papers
NM_001018005.2
p.K226R
c.677A>G
1 paper
NM_001018005.2
p.K226K
c.678G>A
1 paper
NM_001018005.2
p.I225V
c.673A>G
1 paper
NM_001018005.2
p.E224D
c.672G>C
1 paper
NM_001018005.2
p.E224D
c.672G>T
1 paper
NM_001018005.2
p.E224A
c.671A>C
1 paper
NM_001018005.2
p.E224G
c.671A>G
1 paper
NM_001018005.2
p.E224Q
c.670G>C
1 paper
NM_001018005.2
p.E224del1
c.670_671delGAG
1 paper
NM_001018005.2
p.E223K
c.667G>A
3 papers
NM_001018005.2
p.S229F
c.686C>T
1 paper
NM_001018005.2
p.S229S
c.687C>T
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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."