Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q356L

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.Q356L
c.1067A>T
Surrounding Variants
1 paper
NM_001079668.3
p.G355insFs
c.1064_1065insT
1 paper
NM_001079668.3
p.S357insFs
c.1069dupT
1 paper
NM_001079668.3
p.A354V
c.1061C>T
1 paper
NM_001079668.3
p.D359V
c.1076A>T
1 paper
NM_001079668.3
p.D359G
c.1076A>G
1 paper
NM_001079668.3
p.P351insFs
c.1053dupA
9 papers
NM_003317.4
p.G322S
c.964G>A
NM_001079668.3
p.G352S
c.1054G>A
1 paper
NM_001079668.3
p.L360Fs
c.1079_1080delinsCCAFs
1 paper
NM_001079668.3
p.G352fs
c.1054_1055fs
1 paper
NM_001079668.3
p.Q350_P351delFs
c.1050_1051delGC
1 paper
NM_001079668.3
p.A345_H349delFs
c.1034_1047del14
2 papers
NM_001079668.3
p.Q350fs
c.1048_1049fs
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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."