Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.S271F

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.S271F
c.812C>T
Surrounding Variants
1 paper
NM_001321120.2
p.S271fs
c.811_812fs
1 paper
NM_001321120.2
p.I270_S273Fs
c.810_819delinsCATCATFs
1 paper
NM_001321120.2
p.I270_S273Fs
c.810_819delinsCATCATGAGGTFs
2 papers
NM_001321120.2
p.I270S
c.809T>G
1 paper
NM_001321120.2
p.V269M
c.805G>A
1 paper
NM_001321120.2
p.S264Splc
c.792-1G>A
3 papers
NM_001321120.2
p.S264Splc
c.792-1G>C
2 papers
NM_001321120.2
p.Q283insFs
c.847dupC
1 paper
NM_001321120.2
p.P282T
c.844C>A
1 paper
NM_001321120.2
p.P282S
c.844C>T
2 papers
NM_001321120.2
p.Q283fs
c.847_848fs
1 paper
NM_001321120.2
p.P288A
c.862C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."