Varaico: Literature-Extracted Genetic Variants

Gene:TBX21
Variant:p.R218H

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
3 papers
NM_013351.2
p.R218H
c.653G>A
Surrounding Variants
1 paper
NM_013351.2
p.R218C
c.652C>T
1 paper
NM_013351.2
p.R218_L219del1
c.653_655delGCC
1 paper
NM_013351.2
p.R234S
c.700C>A
1 paper
NM_013351.2
p.R234ins7
c.700_701ins21
1 paper
NM_013351.2
p.R234C
c.700C>T
1 paper
NM_013351.2
p.V237insFs
c.710dupT
1 paper
NM_013351.2
p.K243N
c.729G>T
1 paper
NM_013351.2
p.G249R
c.745G>A
1 paper
NM_013351.2
p.G249R
c.745G>C
1 paper
NM_013351.2
p.E211Q
c.631G>C
1 paper
NM_013351.2
p.Y199H
c.595T>C
1 paper
NM_013351.2
p.H196N
c.586C>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."