Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P185R

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.P185R
c.554C>G
Surrounding Variants
2 papers
NM_001079668.3
p.P185delFs
c.554delG
2 papers
NM_001079668.3
p.P185fs
c.553_554fs
4 papers
NM_001079668.3
p.L186fs
c.556_557fs
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
1 paper
NM_001079668.3
p.A184_L186delFs
c.552_556del5
1 paper
NM_001079668.3
p.L186L
c.558G>A
1 paper
NM_001079668.3
p.V179_P187del0
c.536_559del24
2 papers
NM_001079668.3
p.K181_N182delFs
c.543_546del4
1 paper
NM_001079668.3
p.S188insFs
c.562_563insC
1 paper
NM_001079668.3
p.N182T
c.545A>C
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