Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.T38_S42delFs

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.T38_S42delFs
c.112_124del13
Surrounding Variants
1 paper
NM_001079668.3
p.V43A
c.128T>C
1 paper
NM_001079668.3
p.D45N
c.133G>A
1 paper
NM_001079668.3
p.I46F
c.136A>T
1 paper
NM_001079668.3
p.S44_D45delFs
c.131_134del4
1 paper
NM_001079668.3
p.T38R
c.113C>G
1 paper
NM_001079668.3
p.T38K
c.113C>A
1 paper
NM_001079668.3
p.T38delFs
c.112delT
1 paper
NM_001079668.3
p.S34delFs
c.101_102delAC
1 paper
NM_001079668.3
p.E51*
c.151G>T
1 paper
NM_001079668.3
p.M33I
c.99G>T
1 paper
NM_001079668.3
p.M33I
c.99G>C
1 paper
NM_001079668.3
p.E51K
c.151G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."