Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.A3V

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.A3V
c.8C>T
Surrounding Variants
1 paper
NM_003289.4
p.A3G
c.8C>G
1 paper
NM_003289.4
p.A3T
c.7G>A
2 papers
NM_003289.4
p.D2V
c.5A>T
1 paper
NM_003289.4
p.D2G
c.5A>G
1 paper
NM_003289.4
p.M1V
c.1A>G
2 papers
NM_003289.4
p.K7*
c.19A>T
3 papers
NM_003289.4
p.M8R
c.23T>G
24 papers
NM_003289.4
p.K7del1
c.19_20delCTT
1 paper
NM_003289.4
p.Q9*
c.25C>T
1 paper
NM_003289.4
p.Q9Q
c.27G>A
1 paper
NM_003289.4
p.Q9_L11delFs
c.27_31del5
1 paper
NM_003289.4
p.L11L
c.33G>A
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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."