Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.V75insFs

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.V75insFs
c.223dupG
Surrounding Variants
1 paper
NM_001079668.3
p.V105M
c.313G>A
1 paper
NM_003317.4
p.V75fs
c.223_224fs
1 paper
NM_001079668.3
p.P106L
c.317C>T
1 paper
NM_001079668.3
p.V105_P106insFs
c.313_316dup4
3 papers
NM_001079668.3
p.A93_A103delFs
c.278_308del31
4 papers
NM_001079668.3
p.Q107*
c.319C>T
1 paper
NM_001079668.3
p.T101_A102del2
c.301_305del6
3 papers
NM_001079668.3
p.A93_A102delFs
c.278_306del29
1 paper
NM_001079668.3
p.A102_A103insFs
c.306_307insAG
1 paper
NM_001079668.3
p.L108delFs
c.322delG
1 paper
NM_001079668.3
p.A102V
c.305C>T
1 paper
NM_001079668.3
p.T101T
c.303G>T
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."