Varaico: Literature-Extracted Genetic Variants

Gene:TNNI2

TNNI2

69 papers

RefSeq Summary

This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The t...

Pfam Domains

Troponinaa 15–145UCSCTroponin

Gene Aliases

HGNC Name

troponin I2, fast skeletal type

HGNC Previous Symbol

AMCD2B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
18 papers
NM_003282.4
p.K175del1
c.523_524delAAG
17 papers
NM_003282.4
p.R174Q
c.521G>A
16 papers
NM_003282.4
p.R156*
c.466C>T
13 papers
NM_003282.4
p.E167del1
c.499_500delGAG
6 papers
NM_003282.4
p.K175N
c.525G>C
6 papers
NM_003282.4
p.K175N
c.525G>T
5 papers
NM_003282.4
p.F178C
c.533T>G
4 papers
NM_003282.4
p.R162G
c.484A>G
4 papers
NM_003282.4
p.K168E
c.502A>G
4 papers
NM_003282.4
p.R174W
c.520C>T
3 papers
NM_003282.4
p.R162K
c.485G>A
3 papers
NM_003282.4
p.I165F
c.493A>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."