Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.W401*

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.W401*
c.1202G>A
Surrounding Variants
2 papers
NM_001079668.3
p.*402R
c.1204T>A
1 paper
NM_001079668.3
p.*402insFs
c.1204dupT
1 paper
NM_001079668.3
p.*402C
c.1206A>T
2 papers
NM_001079668.3
p.R399Q
c.1196G>A
1 paper
NM_003317.4
p.R369W
c.1105C>T
1 paper
NM_001079668.3
p.Y397*
c.1191C>G
1 paper
NM_001079668.3
p.Y397*
c.1191C>A
1 paper
NM_001079668.3
p.T394A
c.1180A>G
1 paper
NM_001079668.3
p.S393Y
c.1178C>A
1 paper
NM_003317.4
p.M360fs
c.1078_1079fs
1 paper
NM_003317.4
p.Y357_T359insFs
c.1071_1077dup7
2 papers
NM_001079668.3
p.Y387*
c.1161C>G
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