Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.G384R

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.G384R
c.1150G>C
Surrounding Variants
1 paper
NM_001379200.1
p.G384R
c.1150G>A
1 paper
NM_001379200.1
p.P383P
c.1149C>G
1 paper
NM_001379200.1
p.G386delFs
c.1158delC
1 paper
NM_001379200.1
p.S381delFs
c.1143delG
3 papers
NM_001379200.1
p.G386_G387Fs
c.1158_1159delinsTFs
1 paper
NM_001379200.1
p.G387fs
c.1159_1160fs
2 papers
NM_001379200.1
p.G387fs
c.1159_1160fs
1 paper
NM_001379200.1
p.A388_G389insGA
c.1162_1166ins6
1 paper
NM_001379200.1
p.R376Q
c.1127G>A
1 paper
NM_001379200.1
p.P393L
c.1178C>T
1 paper
NM_001379200.1
p.L374_A375insFs
c.1122_1123insA
1 paper
NM_001379200.1
p.P395P
c.1185C>T
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