Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A9V

NKX2-1

495 papers

RefSeq Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific ge...

Pfam Domains

Homeodomainaa 162–218UCSCHomeodomain
Homeodomainaa 162–218UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 1

HGNC Previous Symbols

NKX2A; BCH; TITF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079668.3
p.A9V
c.26C>T
Surrounding Variants
4 papers
NM_001079668.3
p.R10Q
c.29G>A
1 paper
NM_001079668.3
p.G7insFs
c.20dupG
1 paper
NM_001079668.3
p.W12R
c.34T>C
1 paper
NM_001079668.3
p.W12L
c.35G>T
1 paper
NM_001079668.3
p.S6I
c.17G>T
1 paper
NM_001079668.3
p.W12S
c.35G>C
2 papers
NM_001079668.3
p.W12*
c.35G>A
1 paper
NM_001079668.3
p.S6N
c.17G>A
1 paper
NM_001079668.3
p.W12_E13insFs
c.36_37insC
1 paper
NM_001079668.3
p.W12*
c.36G>A
1 paper
NM_001079668.3
p.E13*
c.37G>T
6 papers
NM_001079668.3
p.G5R
c.13G>C
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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."