Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D80V

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
4 papers
NM_001018005.2
p.D80V
c.239A>T
Surrounding Variants
1 paper
NM_001018005.2
p.D80A
c.239A>C
1 paper
NM_001018005.2
p.D80G
c.239A>G
2 papers
NM_001018005.2
p.D80N
c.238G>A
1 paper
NM_001018005.2
p.D80_A81Splc
c.240+2T>G
3 papers
NM_001018005.2
p.D80_A81Splc
c.240+3A>G
3 papers
NM_001018005.2
p.A78V
c.233C>T
1 paper
NM_001018005.2
p.D80_A81Splc
c.240+5G>A
1 paper
NM_001018005.2
p.K77fs
c.229_230fs
1 paper
NM_001018005.2
p.E75D
c.225G>C
1 paper
NM_001018005.2
p.E75D
c.225G>T
2 papers
NM_001018005.2
p.K76delFs
c.226delA
1 paper
NM_001018005.2
p.A74S
c.220G>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."