Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.M246_A250del5

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.M246_A250del5
c.736_749del15
Surrounding Variants
2 papers
NM_001079668.3
p.D252insFs
c.754_755insT
1 paper
NM_001079668.3
p.D252fs
c.754_755fs
4 papers
NM_001079668.3
p.Q249*
c.745C>T
2 papers
NM_001079668.3
p.A254_A255insG
c.760_764ins3
1 paper
NM_001079668.3
p.A254insFs
c.760_761insA
1 paper
NM_001079668.3
p.A254fs
c.760_761fs
1 paper
NM_001079668.3
p.R248H
c.743G>A
1 paper
NM_001079668.3
p.A254V
c.761C>T
1 paper
NM_001079668.3
p.K247_R248insFs
c.741_742insA
1 paper
NM_001079668.3
p.K247R
c.740A>G
1 paper
NM_001079668.3
p.M246I
c.738G>T
1 paper
NM_001079668.3
p.M246I
c.738G>C
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