Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.F198L

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
4 papers
NM_001079668.3
p.F198L
c.594C>A
Surrounding Variants
4 papers
NM_001079668.3
p.F198L
c.594C>G
1 paper
NM_001079668.3
p.F198S
c.593T>C
5 papers
NM_001079668.3
p.F198L
c.592T>C
1 paper
NM_001079668.3
p.S199W
c.596C>G
7 papers
NM_001079668.3
p.S199*
c.596C>A
NM_003317.4
p.S169*
c.506C>A
5 papers
NM_001079668.3
p.L197P
c.590T>C
1 paper
NM_003317.4
p.Q170*
c.508C>T
1 paper
NM_001079668.3
p.Q200L
c.599A>T
1 paper
NM_001079668.3
p.A201P
c.601G>C
2 papers
NM_003317.4
p.R165fs
c.493_494fs
1 paper
NM_003317.4
p.R165delFs
c.493delG
1 paper
NM_001079668.3
p.Q202fs
c.604_605fs
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."