Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.G319G

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.G319G
c.957C>T
Surrounding Variants
1 paper
NM_005992.1
p.G310A
c.929G>C
13 papers
NM_080646.2
p.G310S
c.928G>A
NM_080647.1
p.G319S
c.955G>A
1 paper
NM_080647.1
p.G310C
c.928G>T
2 papers
NM_080647.1
p.A311A
c.933A>G
2 papers
NM_001379200.1
p.L323_A326insFs
c.967_977dup11
1 paper
NM_001379200.1
p.F327V
c.979T>G
1 paper
NM_001379200.1
p.R329C
c.985C>T
1 paper
NM_001379200.1
p.S330A
c.988T>G
1 paper
NM_005992.1
p.N323_A326insFs
c.967_977dup11
1 paper
NM_001379200.1
p.A335D
c.1004C>A
2 papers
NM_005992.1
p.T334M
c.1001C>T
1 paper
NM_080647.1
p.D337Splc
c.1009+1G>C
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