Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.M33I

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.M33I
c.99G>A
Surrounding Variants
1 paper
NM_001079668.3
p.M33I
c.99G>T
1 paper
NM_001079668.3
p.M33I
c.99G>C
1 paper
NM_001079668.3
p.M33V
c.97A>G
1 paper
NM_001079668.3
p.S34delFs
c.101_102delAC
1 paper
NM_003317.4
p.M1insFs
c.1dupA
1 paper
NM_001079668.3
p.R29R
c.87A>T
1 paper
NM_001079668.3
p.R29insFs
c.86_87insG
1 paper
NM_001079668.3
p.R29delFs
c.85_86delCG
1 paper
NM_001079668.3
p.T38R
c.113C>G
1 paper
NM_001079668.3
p.T38K
c.113C>A
1 paper
NM_001079668.3
p.T38delFs
c.112delT
1 paper
NM_001079668.3
p.R27C
c.79C>T
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