Varaico: Literature-Extracted Genetic Variants

Gene:TNNI2
Variant:p.F178C

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
Selected Variant
5 papers
NM_003282.4
p.F178C
c.533T>G
Surrounding Variants
1 paper
NM_003282.4
p.F178L
c.534T>A
1 paper
NM_003282.4
p.F178L
c.532T>C
1 paper
NM_003282.4
p.F178L
c.534T>G
6 papers
NM_003282.4
p.K175N
c.525G>C
3 papers
NM_003282.4
p.E181Q
c.541G>C
6 papers
NM_003282.4
p.K175N
c.525G>T
17 papers
NM_003282.4
p.R174Q
c.521G>A
18 papers
NM_003282.4
p.K175del1
c.523_524delAAG
4 papers
NM_003282.4
p.R174W
c.520C>T
4 papers
NM_003282.4
p.K168E
c.502A>G
13 papers
NM_003282.4
p.E167del1
c.499_500delGAG
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."