Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.K49*

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
2 papers
NM_003289.4
p.K49*
c.145A>T
Surrounding Variants
1 paper
NM_003289.4
p.K49M
c.146A>T
14 papers
NM_003289.4
p.K49del1
c.145_146delCTT
1 paper
NM_003289.4
p.Q47_L50del0
c.140_148del9
1 paper
NM_003289.4
p.K51E
c.151A>G
1 paper
NM_003289.4
p.G52R
c.154G>C
1 paper
NM_003289.4
p.G52R
c.154G>A
1 paper
NM_003289.4
p.A45T
c.133G>A
1 paper
NM_003289.4
p.G52ins0
c.154_156dupGGG
1 paper
NM_003289.4
p.Q44H
c.132G>C
3 papers
NM_003289.4
p.E54K
c.160G>A
1 paper
NM_003289.4
p.D55delFs
c.163_164delTC
1 paper
NM_003289.4
p.E42K
c.124G>A
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