Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.Y60*

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.Y60*
c.180T>A
Surrounding Variants
1 paper
NM_003289.4
p.Y60*
c.180T>G
5 papers
NM_003289.4
p.S61P
c.181T>C
3 papers
NM_003289.4
p.E62Q
c.184G>C
1 paper
NM_003289.4
p.E62K
c.184G>A
1 paper
NM_003289.4
p.S63A
c.187T>G
1 paper
NM_003289.4
p.V57V
c.171G>C
1 paper
NM_003289.4
p.E62_S63del1
c.186_188delGAT
1 paper
NM_003289.4
p.D55delFs
c.163_164delTC
1 paper
NM_003289.4
p.E66*
c.196G>T
1 paper
NM_003289.4
p.E66Q
c.196G>C
1 paper
NM_003289.4
p.E66K
c.196G>A
1 paper
NM_003289.4
p.E66D
c.198G>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."