Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q172E

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_003317.4
p.Q172E
c.514C>G
Surrounding Variants
1 paper
NM_001079668.3
p.Q202fs
c.604_605fs
1 paper
NM_001079668.3
p.Q202*
c.604C>T
1 paper
NM_001079668.3
p.Q202L
c.605A>T
2 papers
NM_001079668.3
p.Q202R
c.605A>G
2 papers
NM_001079668.3
p.Q202H
c.606G>T
NM_003317.4
p.Q172H
c.516G>T
3 papers
NM_001079668.3
p.Q202fs
c.604_605fs
2 papers
NM_001079668.3
p.Q202H
c.606G>C
NM_003317.4
p.Q172H
c.516G>C
1 paper
NM_001079668.3
p.Q202Q
c.606G>A
1 paper
NM_001079668.3
p.V203L
c.607G>T
1 paper
NM_001079668.3
p.V203L
c.607G>C
1 paper
NM_001079668.3
p.A201P
c.601G>C
1 paper
NM_001079668.3
p.Q200L
c.599A>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."