Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.I100M

TNNT2

789 papers

RefSeq Summary

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regul...

Pfam Domains

Troponinaa 103–241UCSCTroponin

Gene Aliases

HGNC Name

troponin T2, cardiac type

HGNC Previous Symbols

CMH2; CMD1D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001276345.2
p.I100M
c.300C>G
NM_001001430.3
p.I90M
c.270C>G
Surrounding Variants
2 papers
NM_001276345.2
p.I100N
c.299T>A
2 papers
NM_001276345.2
p.I100V
c.298A>G
39 papers
NM_001001430.3
p.R92W
c.274C>T
NM_001276345.2
p.R102W
c.304C>T
NM_001001432.3
p.R87W
c.259C>T
1 paper
NM_001276345.2
p.D99V
c.296A>T
9 papers
NM_001001430.3
p.R92L
c.275G>T
NM_001276345.2
p.R102L
c.305G>T
1 paper
NM_001001430.3
p.R92P
c.275G>C
28 papers
NM_001001430.3
p.R92Q
c.275G>A
NM_001276345.2
p.R102Q
c.305G>A
NM_001001432.3
p.R87Q
c.260G>A
1 paper
NM_001276345.2
p.D99N
c.295G>A
1 paper
NM_001276345.2
p.D98_D99Splc
c.295-1G>A
1 paper
NM_001276345.2
p.D98_D99Splc
c.295-2A>G
3 papers
NM_001001430.3
p.K93Q
c.277A>C
NM_001276345.2
p.K103Q
c.307A>C
NM_001001432.3
p.K88Q
c.262A>C
16 papers
NM_001001430.3
p.R94C
c.280C>T
NM_001276345.2
p.R104C
c.310C>T
NM_001001432.3
p.R89C
c.265C>T
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