Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.Q195*

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
14 papers
NM_001077653.2
p.Q195*
c.583C>T
Surrounding Variants
1 paper
NM_001077653.2
p.Q195E
c.583C>G
1 paper
NM_001077653.2
p.L196V
c.586C>G
1 paper
NM_001077653.2
p.L196I
c.586C>A
1 paper
NM_001077653.2
p.G193S
c.577G>A
5 papers
NM_001077653.2
p.L197P
c.590T>C
1 paper
NM_001077653.2
p.T192T
c.576C>T
1 paper
NM_001077653.2
p.K198fs
c.592_593fs
1 paper
NM_001077653.2
p.K198I
c.593A>T
1 paper
NM_001077653.2
p.M200T
c.599T>C
5 papers
NM_001077653.2
p.H186D
c.556C>G
1 paper
NM_001077653.2
p.L183fs
c.547_548fs
3 papers
NM_001077653.2
p.T209I
c.626C>T
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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."