Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-2
Variant:p.P112L

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.P112L
c.335C>T
Surrounding Variants
1 paper
NM_002509.4
p.E110Q
c.328G>C
3 papers
NM_002509.4
p.P119fs
c.355_356fs
1 paper
NM_002509.4
p.P119delFs
c.356delG
1 paper
NM_002509.4
p.G122A
c.365G>C
1 paper
NM_002509.4
p.G122fs
c.364_365fs
1 paper
NM_002509.4
p.D124G
c.371A>G
1 paper
NM_002509.4
p.D124delFs
c.370delC
3 papers
NM_002509.4
p.R129*
c.385C>T
1 paper
NM_002509.4
p.R131Q
c.392G>A
1 paper
NM_002509.4
p.L87_L90delFs
c.260_270del11
1 paper
NM_002509.4
p.K137delFs
c.409delT
1 paper
NM_002509.4
p.A138V
c.413C>T
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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."