Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.S125*

TBX20

168 papers

RefSeq Summary

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental pr...

Pfam Domains

T-boxaa 102–288UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 20

HGNC Previous Name

T-box 20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001077653.2
p.S125*
c.374C>A
Surrounding Variants
1 paper
NM_001077653.2
p.S125L
c.374C>T
2 papers
NM_001077653.2
p.S125W
c.374C>G
2 papers
NM_001077653.2
p.R127Splc
c.380+1G>C
1 paper
NM_001077653.2
p.I122V
c.364A>G
11 papers
NM_001077653.2
p.I121M
c.363C>G
7 papers
NM_001077653.2
p.I121F
c.361A>T
2 papers
NM_001077653.2
p.E119K
c.355G>A
1 paper
NM_001077653.2
p.G117D
c.350G>A
1 paper
NM_001077653.2
p.T106A
c.316A>G
1 paper
NM_001077653.2
p.I100I
c.300T>A
1 paper
NM_001077653.2
p.E95K
c.283G>A
1 paper
NM_001077653.2
p.C81_T89del9
c.241_266del27
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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."