Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.T79I

TPM2

306 papers

RefSeq Summary

This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other ...

Pfam Domains

Tropomyosinaa 62–284UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 2

HGNC Previous Symbol

AMCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003289.4
p.T79I
c.236C>T
Surrounding Variants
1 paper
NM_003289.4
p.D80_A81Splc
c.240+2T>G
1 paper
NM_003289.4
p.D80_A81Splc
c.240+2T>C
3 papers
NM_003289.4
p.D80_A81Splc
c.240+5G>A
1 paper
NM_003289.4
p.Q73*
c.217C>T
1 paper
NM_003289.4
p.Q73K
c.217C>A
4 papers
NM_003289.4
p.E72K
c.214G>A
2 papers
NM_003289.4
p.K70T
c.209A>C
1 paper
NM_003289.4
p.E69*
c.205G>T
1 paper
NM_003289.4
p.E66D
c.198G>T
1 paper
NM_003289.4
p.E66D
c.198G>C
1 paper
NM_003289.4
p.E66*
c.196G>T
1 paper
NM_003289.4
p.E66Q
c.196G>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."