Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.V172M

TBX1

254 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 121–306UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 1

HGNC Alias Symbol

CATCH22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379200.1
p.V172M
c.514G>A
Surrounding Variants
1 paper
NM_001379200.1
p.F171insFs
c.512_513insGC
1 paper
NM_005992.1
p.V165_D166insG
c.493_497ins3
2 papers
NM_080647.1
p.D166_D167insFs
c.498_501dup4
2 papers
NM_005992.1
p.L159P
c.476T>C
NM_001379200.1
p.L168P
c.503T>C
1 paper
NM_001379200.1
p.K177*
c.529A>T
2 papers
NM_001379200.1
p.M166delFs
c.496delA
1 paper
NM_001379200.1
p.D164A
c.491A>C
3 papers
NM_005992.1
p.D155N
c.463G>A
1 paper
NM_005992.1
p.D151E
c.453T>A
1 paper
NM_005992.1
p.D151E
c.453T>G
1 paper
NM_001379200.1
p.M159L
c.475A>T
1 paper
NM_001379200.1
p.G158S
c.472G>A
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