Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q263E

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
2 papers
NM_001018005.2
p.Q263E
c.787C>G
Surrounding Variants
1 paper
NM_001018005.2
p.Q263*
c.787C>T
6 papers
NM_001018005.2
p.Q263L
c.788A>T
4 papers
NM_001018005.2
p.K264E
c.790A>G
2 papers
NM_001018005.2
p.A262T
c.784G>A
3 papers
NM_001018005.2
p.K264R
c.791A>G
1 paper
NM_001018005.2
p.Y261C
c.782A>G
1 paper
NM_001018005.2
p.L265M
c.793C>A
1 paper
NM_001018005.2
p.L260V
c.778C>G
4 papers
NM_001018005.2
p.K266R
c.797A>G
1 paper
NM_001018005.2
p.K266M
c.797A>T
1 paper
NM_001018005.2
p.E259A
c.776A>C
4 papers
NM_001018005.2
p.E259V
c.776A>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."