Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D80_A81Splc

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
2 papers
NM_001018005.2
p.D80_A81Splc
c.241-1G>C
Surrounding Variants
1 paper
NM_001018005.2
p.E82K
c.244G>A
1 paper
NM_001018005.2
p.A83D
c.248C>A
18 papers
NM_001018005.2
p.D84N
c.250G>A
1 paper
NM_001018005.2
p.D84Y
c.250G>T
1 paper
NM_001018005.2
p.D84G
c.251A>G
4 papers
NM_001018005.2
p.D84E
c.252C>A
3 papers
NM_001018005.2
p.D84E
c.252C>G
1 paper
NM_001018008.2
p.D48D
c.144C>T
2 papers
NM_001018005.2
p.V85delFs
c.253_254delGT
1 paper
NM_001018005.2
p.V85I
c.253G>A
2 papers
NM_001018005.2
p.A86T
c.256G>A
1 paper
NM_001018005.2
p.A86fs
c.256_257fs
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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."