Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.G5R

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
6 papers
NM_001079668.3
p.G5R
c.13G>C
Surrounding Variants
1 paper
NM_001079668.3
p.G4*
c.10G>T
1 paper
NM_001079668.3
p.S6I
c.17G>T
1 paper
NM_001079668.3
p.S6N
c.17G>A
1 paper
NM_001079668.3
p.S3S
c.9C>A
1 paper
NM_001079668.3
p.S3F
c.8C>T
1 paper
NM_001079668.3
p.W2*
c.5G>A
1 paper
NM_001079668.3
p.W2G
c.4T>G
1 paper
NM_001079668.3
p.W2R
c.4T>C
1 paper
NM_001079668.3
p.G7insFs
c.20dupG
1 paper
NM_001079668.3
p.M1_W2insFs
c.3_4insA
1 paper
NM_001079668.3
p.M1K
c.2T>A
1 paper
NM_001079668.3
p.M1L
c.1A>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."