Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.R527R

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.R527R
c.1581A>C
Surrounding Variants
4 papers
NM_018488.3
p.L524_E527del4
c.1570_1580del12
2 papers
NM_001321120.2
p.S524_R527del4
c.1570_1580del12
3 papers
NM_018488.3
p.Q531R
c.1592A>G
1 paper
NM_001321120.2
p.M537_G546del10
c.1609_1637del30
1 paper
NM_001321120.2
p.G538_*547del10
c.1612_1640del30
2 papers
NM_018488.3
p.E515K
c.1543G>A
1 paper
NM_001321120.2
p.T539T
c.1617T>A
1 paper
NM_018488.3
p.E515_Q520del6
c.1543_1559del18
1 paper
NM_001321120.2
p.N515_S520del6
c.1543_1559del18
1 paper
NM_001321120.2
p.V540V
c.1620G>A
2 papers
NM_018488.3
p.G545*
c.1633G>T
1 paper
NM_018488.3
p.S507fs
c.1519_1520fs
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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."