Varaico: Literature-Extracted Genetic Variants

Gene:TBX20

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
1–12 of 188 variants
20 papers
NM_001077653.2
p.I152M
c.456C>G
14 papers
NM_001077653.2
p.Q195*
c.583C>T
13 papers
NM_001077653.2
p.T262M
c.785C>T
11 papers
NM_001077653.2
p.I121M
c.363C>G
10 papers
NM_001077653.2
p.Y317*
c.951C>A
9 papers
NM_001077653.2
p.A63T
c.187G>A
9 papers
NM_001077653.2
p.Y317*
c.951C>G
8 papers
NM_001077653.2
p.D176N
c.526G>A
7 papers
NM_001077653.2
p.I121F
c.361A>T
6 papers
NM_001077653.2
p.R311C
c.931C>T
5 papers
NM_001077653.2
p.S13S
c.39T>C
5 papers
NM_001077653.2
p.S125*
c.374C>A
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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."