Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E54K

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
86 papers
NM_001018005.2
p.E54K
c.160G>A
Surrounding Variants
1 paper
NM_001018005.2
p.E54A
c.161A>C
1 paper
NM_001018005.2
p.T53S
c.158C>G
1 paper
NM_001018005.2
p.T53S
c.157A>T
3 papers
NM_001018005.2
p.D55N
c.163G>A
1 paper
NM_001018005.2
p.G52A
c.155G>C
1 paper
NM_001018005.2
p.E56K
c.166G>A
1 paper
NM_001018005.2
p.E56G
c.167A>G
1 paper
NM_001018005.2
p.K51*
c.151A>T
1 paper
NM_001018005.2
p.L57R
c.170T>G
1 paper
NM_001018005.2
p.L50F
c.148C>T
2 papers
NM_001018005.2
p.D58N
c.172G>A
9 papers
NM_001018005.2
p.D58H
c.172G>C
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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."