Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-2
Variant:p.R166H

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.R166H
c.497G>A
Surrounding Variants
1 paper
NM_002509.4
p.A155A
c.465G>A
1 paper
NM_002509.4
p.N178T
c.533A>C
1 paper
NM_002509.4
p.R151L
c.452G>T
1 paper
NM_002509.4
p.M183K
c.548T>A
1 paper
NM_002509.4
p.K184E
c.550A>G
1 paper
NM_002509.4
p.L143delFs
c.427_428delAG
1 paper
NM_002509.4
p.L143fs
c.427_428fs
1 paper
NM_002509.4
p.A138V
c.413C>T
1 paper
NM_002509.4
p.A138E
c.413C>A
1 paper
NM_002509.4
p.K137delFs
c.409delT
1 paper
NM_002509.4
p.P198S
c.592C>T
1 paper
NM_002509.4
p.S199A
c.595T>G
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