Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.K163E

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
2 papers
NM_001080508.3
p.K163E
c.487A>G
Surrounding Variants
1 paper
NM_001080508.3
p.A164T
c.490G>A
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
1 paper
NM_001080508.3
p.R140L
c.419G>T
1 paper
NM_001080508.3
p.P136S
c.406C>T
1 paper
NM_001080508.3
p.G120E
c.359G>A
1 paper
NM_001080508.3
p.G120R
c.358G>C
1 paper
NM_001080508.3
p.G120R
c.358G>A
1 paper
NM_001080508.3
p.P118H
c.353C>A
1 paper
NM_001080508.3
p.L92M
c.274C>A
1 paper
NM_001080508.3
p.T82_P85ins1
c.244_255dup12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."