Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.I237delFs

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.I237delFs
c.710_711delGA
Surrounding Variants
9 papers
NM_003317.4
p.W208L
c.623G>T
NM_001079668.3
p.W238L
c.713G>T
3 papers
NM_001079668.3
p.W238S
c.713G>C
NM_003317.4
p.W208S
c.623G>C
3 papers
NM_001079668.3
p.W238*
c.713G>A
2 papers
NM_001079668.3
p.T233_W238delins
c.698_713delinsAGCAGATCAAGATCTC
4 papers
NM_001079668.3
p.W238*
c.714G>A
1 paper
NM_001079668.3
p.W238fs
c.712_713fs
1 paper
NM_001079668.3
p.W238delFs
c.714delC
3 papers
NM_001079668.3
p.I237M
c.711C>G
7 papers
NM_001079668.3
p.I237F
c.709A>T
NM_003317.4
p.I207F
c.619A>T
1 paper
NM_001079668.3
p.Q234_K236delFs
c.702_708del7
1 paper
NM_001079668.3
p.Q240*
c.718C>T
6 papers
NM_001079668.3
p.Q240P
c.719A>C
NM_003317.4
p.Q210P
c.629A>C
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."