Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Y214_S215Fs

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.Y214_S215Fs
c.642_643delinsTFs
Surrounding Variants
1 paper
NM_001018005.2
p.S215*
c.644C>A
28 papers
NM_001018005.2
p.S215L
c.644C>T
1 paper
NM_001018005.2
p.K217del1
c.649_650delAAG
2 papers
NM_001018005.2
p.Q216R
c.647A>G
1 paper
NM_001018005.2
p.K217R
c.650A>G
1 paper
NM_001018005.2
p.E218del1
c.652_653delGAA
1 paper
NM_001018005.2
p.E218K
c.652G>A
2 papers
NM_001018005.2
p.E218G
c.653A>G
6 papers
NM_001018005.2
p.D219N
c.655G>A
1 paper
NM_001018005.2
p.D219G
c.656A>G
5 papers
NM_001018005.2
p.D219V
c.656A>T
3 papers
NM_001018005.2
p.Y221C
c.662A>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."