Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.V54I

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.V54I
c.160G>A
Surrounding Variants
2 papers
NM_001321120.2
p.V54fs
c.160_161fs
1 paper
NM_001321120.2
p.A52P
c.154G>C
1 paper
NM_001321120.2
p.A52fs
c.154_155fs
2 papers
NM_001321120.2
p.A56V
c.167C>T
2 papers
NM_001321120.2
p.G51_E61delFs
c.153_181del29
3 papers
NM_001321120.2
p.P50fs
c.148_149fs
2 papers
NM_001321120.2
p.A58T
c.172G>A
1 paper
NM_001321120.2
p.P50delFs
c.150delC
2 papers
NM_001321120.2
p.G49fs
c.145_146fs
1 paper
NM_001321120.2
p.A60insFs
c.179_180dupCG
2 papers
NM_001321120.2
p.G49delFs
c.146delG
1 paper
NM_001321120.2
p.A60T
c.178G>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."