Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.D195G

TBX18

98 papers

RefSeq Summary

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-...

Pfam Domains

T-boxaa 141–330UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 18

HGNC Previous Name

T-box 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080508.3
p.D195G
c.584A>G
Surrounding Variants
2 papers
NM_001080508.3
p.P193P
c.579A>T
1 paper
NM_001080508.3
p.V192L
c.574G>T
1 paper
NM_001080508.3
p.V192L
c.574G>C
1 paper
NM_001080508.3
p.R200M
c.599G>T
2 papers
NM_001080508.3
p.M172I
c.516G>T
2 papers
NM_001080508.3
p.M172I
c.516G>C
2 papers
NM_001080508.3
p.M172I
c.516G>A
1 paper
NM_001080508.3
p.A164T
c.490G>A
2 papers
NM_001080508.3
p.K163E
c.487A>G
1 paper
NM_001080508.3
p.H153Y
c.457C>T
2 papers
NM_001080508.3
p.R151L
c.452G>T
1 paper
NM_001080508.3
p.L148P
c.443T>C
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