Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.Q92Splc

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.Q92Splc
c.274+30C>G
Surrounding Variants
2 papers
NM_001136271.3
p.V80L
c.238G>C
1 paper
NM_001136271.3
p.D68D
c.204T>C
2 papers
NM_001136271.3
p.G61S
c.181G>A
1 paper
NM_001136271.3
p.L44L
c.132G>C
1 paper
NM_001136271.3
p.L17V
c.49C>G
1 paper
NM_001136271.3
p.F11insFs
c.31dupT
1 paper
NM_001136271.3
p.M1insFs
c.2dupT
1 paper
NM_001136271.3
p.M1L
c.1A>T
1 paper
NM_001136271.3
p.G94G
c.282C>T
1 paper
NM_001136271.3
p.E109K
c.325G>A
1 paper
NM_001136271.3
p.N114S
c.341A>G
2 papers
NM_001136271.3
p.R120P
c.359G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."