Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-2
Variant:p.K184E

NKX2-2

53 papers

RefSeq Summary

The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes...

Pfam Domains

Homeodomainaa 129–185UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 2

HGNC Previous Symbol

NKX2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002509.4
p.K184E
c.550A>G
Surrounding Variants
1 paper
NM_002509.4
p.M183K
c.548T>A
1 paper
NM_002509.4
p.N178T
c.533A>C
1 paper
NM_002509.4
p.P198S
c.592C>T
1 paper
NM_002509.4
p.S199A
c.595T>G
1 paper
NM_002509.4
p.R166H
c.497G>A
1 paper
NM_002509.4
p.A155A
c.465G>A
1 paper
NM_002509.4
p.R151L
c.452G>T
1 paper
NM_002509.4
p.A217V
c.650C>T
1 paper
NM_002509.4
p.Q221K
c.661C>A
1 paper
NM_002509.4
p.G212_A220delFs
c.635_660del26
1 paper
NM_002509.4
p.A224S
c.670G>T
1 paper
NM_002509.4
p.L143delFs
c.427_428delAG
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."