Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.E503D

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.E503D
c.1509G>T
Surrounding Variants
1 paper
NM_001321120.2
p.E503D
c.1509G>C
1 paper
NM_001321120.2
p.R504R
c.1512G>A
1 paper
NM_018488.3
p.P506delFs
c.1518delC
1 paper
NM_018488.3
p.G500_E502del3
c.1498_1505del9
1 paper
NM_001321120.2
p.Q500_C502del3
c.1498_1505del9
1 paper
NM_018488.3
p.S507fs
c.1519_1520fs
1 paper
NM_001321120.2
p.R496R
c.1488C>T
1 paper
NM_001321120.2
p.N515_S520del6
c.1543_1559del18
1 paper
NM_018488.3
p.E515_Q520del6
c.1543_1559del18
2 papers
NM_018488.3
p.E515K
c.1543G>A
1 paper
NM_018488.3
p.P487fs
c.1459_1460fs
2 papers
NM_001321120.2
p.R486insFs
c.1458dupG
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