Varaico: Literature-Extracted Genetic Variants

Gene:TBX21
Variant:p.E494K

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
2 papers
NM_013351.2
p.E494K
c.1480G>A
Surrounding Variants
1 paper
NM_013351.2
p.R499K
c.1496G>A
2 papers
NM_013351.2
p.R500K
c.1499G>A
1 paper
NM_013351.2
p.R501C
c.1501C>T
1 paper
NM_013351.2
p.P485P
c.1455G>A
1 paper
NM_013351.2
p.I483M
c.1449C>G
1 paper
NM_013351.2
p.V476fs
c.1426_1427fs
1 paper
NM_013351.2
p.P474insFs
c.1422dupC
1 paper
NM_013351.2
p.P518S
c.1552C>T
1 paper
NM_013351.2
p.R466W
c.1396C>T
1 paper
NM_013351.2
p.R466_Q471del6
c.1396_1412del18
1 paper
NM_013351.2
p.A525T
c.1573G>A
1 paper
NM_013351.2
p.S463_E464del0
c.1387_1392del6
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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."