Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.K193T

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.K193T
c.578A>C
Surrounding Variants
1 paper
NM_003317.4
p.R165fs
c.493_494fs
12 papers
NM_001079668.3
p.R195W
c.583C>T
NM_003317.4
p.R165W
c.493C>T
5 papers
NM_001079668.3
p.R191L
c.572G>T
1 paper
NM_003317.4
p.R165delFs
c.493delG
2 papers
NM_003317.4
p.R165fs
c.493_494fs
2 papers
NM_001079668.3
p.R191C
c.571C>T
1 paper
NM_001079668.3
p.S175_P190del16
c.523_569del48
1 paper
NM_001079668.3
p.P190L
c.569C>T
2 papers
NM_003317.4
p.P157_P160Fs
c.470_479delinsGCGFs
5 papers
NM_001079668.3
p.L197P
c.590T>C
2 papers
NM_001079668.3
p.A189V
c.566C>T
1 paper
NM_001079668.3
p.A189T
c.565G>A
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