Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.Y241*

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
1 paper
NM_001136271.3
p.Y241*
c.723C>G
Surrounding Variants
1 paper
NM_001136271.3
p.Y241fs
c.721_722fs
1 paper
NM_001136271.3
p.Y241*
c.723C>A
1 paper
NM_001136271.3
p.A250E
c.749C>A
1 paper
NM_001136271.3
p.F230L
c.690C>G
1 paper
NM_001136271.3
p.F230L
c.690C>A
1 paper
NM_001136271.3
p.F230L
c.688T>C
1 paper
NM_001136271.3
p.A263V
c.788C>T
1 paper
NM_001136271.3
p.R206C
c.616C>T
2 papers
NM_001136271.3
p.L198P
c.593T>C
1 paper
NM_001136271.3
p.K194R
c.581A>G
1 paper
NM_001136271.3
p.Q190*
c.568C>T
3 papers
NM_001136271.3
p.R299G
c.895A>G
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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."