Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G297_P299delFs

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.G297_P299delFs
c.890_896del7
Surrounding Variants
1 paper
NM_001079668.3
p.P299L
c.896C>T
1 paper
NM_001079668.3
p.K298I
c.893A>T
1 paper
NM_001079668.3
p.A302V
c.905C>T
1 paper
NM_001079668.3
p.G297S
c.889G>A
1 paper
NM_003317.4
p.G273delFs
c.818delC
1 paper
NM_003317.4
p.K265delFs
c.793delT
1 paper
NM_001079668.3
p.V294G
c.881T>G
3 papers
NM_003317.4
p.P275fs
c.823_824fs
2 papers
NM_001079668.3
p.P305_A306insFs
c.915_916insC
1 paper
NM_001079668.3
p.A306_P307insAG
c.916_920ins6
3 papers
NM_001079668.3
p.L293del1
c.877_878delCAG
6 papers
NM_003317.4
p.P275delFs
c.825delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."