Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.L478I

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.L478I
c.1432C>A
Surrounding Variants
1 paper
NM_018488.3
p.N475H
c.1423A>C
1 paper
NM_018488.3
p.Y474fs
c.1420_1421fs
1 paper
NM_018488.3
p.V473_Y474insFs
c.1417_1420dup4
1 paper
NM_001321120.2
p.V483fs
c.1447_1448fs
1 paper
NM_001321120.2
p.S473_V474insFs
c.1417_1420dup4
2 papers
NM_001321120.2
p.R486insFs
c.1458dupG
1 paper
NM_018488.3
p.P487fs
c.1459_1460fs
1 paper
NM_001321120.2
p.L459L
c.1377C>T
1 paper
NM_001321120.2
p.R496R
c.1488C>T
1 paper
NM_001321120.2
p.Q500_C502del3
c.1498_1505del9
1 paper
NM_018488.3
p.G500_E502del3
c.1498_1505del9
1 paper
NM_001321120.2
p.E503D
c.1509G>C
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