Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A189V

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
2 papers
NM_001079668.3
p.A189V
c.566C>T
Surrounding Variants
1 paper
NM_001079668.3
p.A189T
c.565G>A
1 paper
NM_001079668.3
p.P190L
c.569C>T
2 papers
NM_003317.4
p.P157_P160Fs
c.470_479delinsGCGFs
1 paper
NM_001079668.3
p.S188insFs
c.562_563insC
2 papers
NM_001079668.3
p.R191C
c.571C>T
1 paper
NM_001079668.3
p.S175_P190del16
c.523_569del48
5 papers
NM_001079668.3
p.R191L
c.572G>T
1 paper
NM_001079668.3
p.V179_P187del0
c.536_559del24
1 paper
NM_001079668.3
p.L186L
c.558G>A
1 paper
NM_001079668.3
p.K181_L186insFs
c.541_556dup16
1 paper
NM_001079668.3
p.V179_L186insFs
c.535_556dup22
2 papers
NM_001079668.3
p.L186delFs
c.556delG
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