Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.A341Splc

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
5 papers
NM_001321120.2
p.A341Splc
c.1021+1G>A
Surrounding Variants
4 papers
NM_001321120.2
p.A341P
c.1021G>C
7 papers
NM_001321120.2
p.R340*
c.1018C>T
2 papers
NM_001321120.2
p.K338*
c.1012A>T
1 paper
NM_001321120.2
p.H335H
c.1005C>T
1 paper
NM_001321120.2
p.L332F
c.994C>T
1 paper
NM_001321120.2
p.S330T
c.988T>A
1 paper
NM_001321120.2
p.D329Y
c.985G>T
1 paper
NM_001321120.2
p.T326fs
c.976_977fs
1 paper
NM_001321120.2
p.P325H
c.974C>A
2 papers
NM_001321120.2
p.F324delFs
c.972delT
1 paper
NM_001321120.2
p.P316Q
c.947C>A
2 papers
NM_001321120.2
p.P316L
c.947C>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."