Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Y244D

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.Y244D
c.730T>G
Surrounding Variants
1 paper
NM_001079668.3
p.Y244insFs
c.730_731insA
1 paper
NM_001079668.3
p.Y244H
c.730T>C
1 paper
NM_001079668.3
p.H242_R243delFs
c.725_729del5
3 papers
NM_003317.4
p.Y214C
c.641A>G
NM_001079668.3
p.Y244C
c.731A>G
1 paper
NM_001079668.3
p.R243L
c.728G>T
5 papers
NM_001079668.3
p.R243P
c.728G>C
NM_003317.4
p.R213P
c.638G>C
3 papers
NM_001079668.3
p.R243H
c.728G>A
3 papers
NM_001079668.3
p.Y244*
c.732C>G
4 papers
NM_001079668.3
p.Y244*
c.732C>A
NM_003317.4
p.Y214*
c.642C>A
8 papers
NM_001079668.3
p.R243S
c.727C>A
NM_003317.4
p.R213S
c.637C>A
1 paper
NM_003317.4
p.H212P
c.635A>C
1 paper
NM_001079668.3
p.M246V
c.736A>G
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