Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.P291L

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
4 papers
NM_001079668.3
p.P291L
c.872C>T
Surrounding Variants
2 papers
NM_001079668.3
p.P291R
c.872C>G
1 paper
NM_001079668.3
p.V290insFs
c.868_869ins7
1 paper
NM_003317.4
p.V260fs
c.778_779fs
1 paper
NM_001079668.3
p.V292V
c.876C>G
1 paper
NM_001079668.3
p.L293_V294insC
c.877_881ins3
1 paper
NM_001079668.3
p.L293insFs
c.877dupC
1 paper
NM_001079668.3
p.L293Q
c.878T>A
5 papers
NM_003317.4
p.V262_L263delFs
c.786_787delGG
NM_001079668.3
p.V292_L293delFs
c.876_877delGG
1 paper
NM_001079668.3
p.A289E
c.866C>A
3 papers
NM_003317.4
p.L263fs
c.787_788fs
1 paper
NM_001079668.3
p.A289T
c.865G>A
1 paper
NM_001079668.3
p.V288V
c.864G>C
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