Varaico: Literature-Extracted Genetic Variants

Gene:TBX21
Variant:p.E100K

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.E100K
c.298G>A
Surrounding Variants
1 paper
NM_013351.2
p.A99_G105delFs
c.297_313del17
1 paper
NM_013351.2
p.A99_Y102del0
c.295_306del12
2 papers
NM_013351.2
p.P95delFs
c.284delC
1 paper
NM_013351.2
p.G105_E106insFs
c.315_316insA
1 paper
NM_013351.2
p.E106_G107insT
c.316_320ins3
1 paper
NM_013351.2
p.A109G
c.326C>G
1 paper
NM_013351.2
p.D112_P113insFs
c.336_337insG
1 paper
NM_013351.2
p.P87L
c.260C>T
1 paper
NM_013351.2
p.F86F
c.258C>T
1 paper
NM_013351.2
p.F86C
c.257T>G
1 paper
NM_013351.2
p.R114C
c.340C>T
1 paper
NM_013351.2
p.R114H
c.341G>A
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