Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.R316S

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.R316S
c.946C>A
Surrounding Variants
1 paper
NM_001080508.3
p.R316C
c.946C>T
1 paper
NM_001080508.3
p.R316H
c.947G>A
1 paper
NM_001080508.3
p.R316R
c.948C>T
2 papers
NM_001080508.3
p.A325V
c.974C>T
1 paper
NM_001080508.3
p.R335K
c.1004G>A
1 paper
NM_001080508.3
p.Q313_I314Splc
c.939+1G>A
1 paper
NM_001080508.3
p.T305T
c.915C>A
2 papers
NM_001080508.3
p.T305A
c.913A>G
1 paper
NM_001080508.3
p.I284M
c.852C>G
1 paper
NM_001080508.3
p.D280V
c.839A>T
1 paper
NM_001080508.3
p.D280Y
c.838G>T
2 papers
NM_001080508.3
p.D280N
c.838G>A
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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."