Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.Y317*

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
9 papers
NM_001077653.2
p.Y317*
c.951C>G
Surrounding Variants
10 papers
NM_001077653.2
p.Y317*
c.951C>A
1 paper
NM_001077653.2
p.G318fs
c.952_953fs
1 paper
NM_001077653.2
p.G318G
c.954A>G
1 paper
NM_001077653.2
p.G319fs
c.955_956fs
1 paper
NM_001077653.2
p.T316A
c.946A>G
1 paper
NM_001077653.2
p.D322Y
c.964G>T
6 papers
NM_001077653.2
p.R311C
c.931C>T
1 paper
NM_001077653.2
p.D326N
c.976G>A
2 papers
NM_001077653.2
p.Y309D
c.925T>G
1 paper
NM_001077653.2
p.Y309N
c.925T>A
1 paper
NM_001077653.2
p.E327Q
c.979G>C
2 papers
NM_001077653.2
p.T331A
c.991A>G
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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."