Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.A162V

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.A162V
c.485C>T
Surrounding Variants
2 papers
NM_001079668.3
p.A162fs
c.484_485fs
1 paper
NM_001079668.3
p.S163fs
c.487_488fs
1 paper
NM_001079668.3
p.S163G
c.487A>G
1 paper
NM_001079668.3
p.P161fs
c.481_482fs
1 paper
NM_001079668.3
p.P161S
c.481C>T
2 papers
NM_001079668.3
p.S163delFs
c.489delG
NM_003317.4
p.S133delFs
c.399delG
1 paper
NM_001079668.3
p.R157_G160Fs
c.470_479delinsGCGFs
1 paper
NM_003317.4
p.R127delFs
c.379delG
1 paper
NM_001079668.3
p.S156insFs
c.467_468insT
2 papers
NM_001079668.3
p.I155fs
c.463_464fs
4 papers
NM_001079668.3
p.I155Splc
c.464-1G>A
NM_003317.4
p.I125Splc
c.374-1G>A
5 papers
NM_001079668.3
p.I155Splc
c.464-2A>T
NM_003317.4
p.I125Splc
c.374-2A>T
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