Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L186R

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
3 papers
NM_001321120.2
p.L186R
c.557T>G
Surrounding Variants
1 paper
NM_001321120.2
p.N187_H190insFs
c.561_570dup10
1 paper
NM_001321120.2
p.K191_Y192del0
c.571_576del6
1 paper
NM_001321120.2
p.H190P
c.569A>C
1 paper
NM_001321120.2
p.K191fs
c.571_572fs
1 paper
NM_001321120.2
p.Y192C
c.575A>G
3 papers
NM_001321120.2
p.Y192*
c.576C>A
3 papers
NM_001321120.2
p.Y192*
c.576C>G
2 papers
NM_001321120.2
p.Q193*
c.577C>T
2 papers
NM_001321120.2
p.R195Q
c.584G>A
1 paper
NM_001321120.2
p.H197_A201delFs
c.590_602del13
1 paper
NM_001321120.2
p.V199I
c.595G>A
2 papers
NM_001321120.2
p.G208S
c.622G>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."