Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.Q84H

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.Q84H
c.252G>T
Surrounding Variants
1 paper
NM_001079668.3
p.Q84H
c.252G>C
1 paper
NM_003317.4
p.Q55*
c.163C>T
1 paper
NM_001079668.3
p.A82_Q84delFs
c.246_250del5
1 paper
NM_003317.4
p.Q54*
c.160C>T
2 papers
NM_001079668.3
p.Q85insFs
c.254_255insG
1 paper
NM_001079668.3
p.Q85insFs
c.254dupA
4 papers
NM_001079668.3
p.Q85_H86insFs
c.255_256insG
1 paper
NM_001079668.3
p.H86L
c.257A>T
1 paper
NM_003317.4
p.M53insFs
c.157_158insC
1 paper
NM_003317.4
p.A51_H56delFs
c.153_166del14
1 paper
NM_003317.4
p.A52fs
c.154_155fs
1 paper
NM_001079668.3
p.H86insFs
c.257dupA
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