Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E40K

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
74 papers
NM_001018005.2
p.E40K
c.118G>A
Surrounding Variants
1 paper
NM_001018005.2
p.E40Q
c.118G>C
4 papers
NM_001018005.2
p.E40*
c.118G>T
1 paper
NM_001018005.2
p.E40fs
c.118_119fs
1 paper
NM_001018005.2
p.L39delFs
c.117delG
1 paper
NM_001018005.2
p.E40_E42del3
c.118_125del9
2 papers
NM_001018005.2
p.D41N
c.121G>A
1 paper
NM_001018005.2
p.Q38_L39Splc
c.115-1G>C
1 paper
NM_001018005.2
p.D41E
c.123T>A
1 paper
NM_001018005.2
p.D41E
c.123T>G
1 paper
NM_001018005.2
p.E42K
c.124G>A
1 paper
NM_001018005.2
p.L43V
c.127C>G
1 paper
NM_001018005.2
p.L43Q
c.128T>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."