Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.K49del1

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
7 papers
NM_001018005.2
p.K49del1
c.145_146delAAA
Surrounding Variants
2 papers
NM_001018005.2
p.K48M
c.143A>T
1 paper
NM_001018005.2
p.K49*
c.145A>T
1 paper
NM_001018005.2
p.K48Q
c.142A>C
1 paper
NM_001018005.2
p.Q47_L50del0
c.141_149del9
1 paper
NM_001018005.2
p.L50F
c.148C>T
1 paper
NM_001018005.2
p.Q47E
c.139C>G
1 paper
NM_001018005.2
p.Q47*
c.139C>T
1 paper
NM_001018005.2
p.L46_Q47ins6
c.138_139ins18
1 paper
NM_001018005.2
p.Q47_L50del4
c.139_149del12
1 paper
NM_001018005.2
p.K51*
c.151A>T
1 paper
NM_001018005.2
p.S45_L46Fs
c.134_136delinsCCFs
1 paper
NM_001018005.2
p.G52A
c.155G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."