Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L165L

TBX4

137 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 69–251UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 4

HGNC Previous Name

T-box 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001321120.2
p.L165L
c.493C>T
Surrounding Variants
1 paper
NM_001321120.2
p.S167del1
c.499_500delTCC
1 paper
NM_001321120.2
p.S167_T174delFs
c.499_520del22
1 paper
NM_001321120.2
p.R163_K170delFs
c.489_510del22
1 paper
NM_001321120.2
p.K172_T174del0
c.515_520del6
1 paper
NM_001321120.2
p.G158delFs
c.474delA
5 papers
NM_001321120.2
p.N175_N176delFs
c.524_527del4
4 papers
NM_001321120.2
p.N175fs
c.523_524fs
1 paper
NM_001321120.2
p.H177Y
c.529C>T
1 paper
NM_001321120.2
p.P152L
c.455C>T
1 paper
NM_001321120.2
p.D179Fs
c.536_537delinsAFs
3 papers
NM_001321120.2
p.D179_G182delFs
c.537_546del10
1 paper
NM_001321120.2
p.P180S
c.538C>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."