Varaico: Literature-Extracted Genetic Variants

Gene:TBX21
Variant:p.Y199H

TBX21

171 papers

RefSeq Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developm...

Pfam Domains

T-boxaa 139–326UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 21

HGNC Alias Symbols

TBLYM; T-bet

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013351.2
p.Y199H
c.595T>C
Surrounding Variants
1 paper
NM_013351.2
p.H196N
c.586C>A
1 paper
NM_013351.2
p.E211Q
c.631G>C
1 paper
NM_013351.2
p.Y183_R184insCC
c.547_551ins6
1 paper
NM_013351.2
p.E178Q
c.532G>C
1 paper
NM_013351.2
p.F172insFs
c.514dupT
1 paper
NM_013351.2
p.F169L
c.507C>A
1 paper
NM_013351.2
p.F169L
c.507C>G
1 paper
NM_013351.2
p.F169L
c.505T>C
1 paper
NM_013351.2
p.R218_L219del1
c.653_655delGCC
1 paper
NM_013351.2
p.R218C
c.652C>T
3 papers
NM_013351.2
p.R218H
c.653G>A
1 paper
NM_013351.2
p.R234S
c.700C>A
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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."