Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.K152*

NKX2-6

41 papers

RefSeq Summary

This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been...

Pfam Domains

Homeodomainaa 133–189UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 6

HGNC Alias Symbols

CSX2; NKX4-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001136271.3
p.K152*
c.454A>T
Surrounding Variants
1 paper
NM_001136271.3
p.K152Q
c.454A>C
6 papers
NM_001136271.3
p.F151L
c.453C>G
3 papers
NM_001136271.3
p.F151_K152insFs
c.453_454insT
6 papers
NM_001136271.3
p.F151L
c.453C>A
2 papers
NM_001136271.3
p.K152fs
c.454_455fs
2 papers
NM_001136271.3
p.K152insFs
c.455dupA
5 papers
NM_001136271.3
p.F151L
c.451T>C
2 papers
NM_001136271.3
p.Q153fs
c.457_458fs
2 papers
NM_001136271.3
p.R150C
c.448C>T
2 papers
NM_001136271.3
p.R155L
c.464G>T
1 paper
NM_001136271.3
p.Y156*
c.468C>G
1 paper
NM_001136271.3
p.Y156*
c.468C>A
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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."