Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.R349*

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.R349*
c.1045C>T
Surrounding Variants
1 paper
NM_001080508.3
p.R349Q
c.1046G>A
2 papers
NM_001080508.3
p.W348L
c.1043G>T
1 paper
NM_001080508.3
p.F347L
c.1041C>G
1 paper
NM_001080508.3
p.F347L
c.1041C>A
1 paper
NM_001080508.3
p.F347L
c.1039T>C
1 paper
NM_001080508.3
p.G337delFs
c.1010delC
1 paper
NM_001080508.3
p.G337fs
c.1009_1010fs
1 paper
NM_001080508.3
p.R335K
c.1004G>A
1 paper
NM_001080508.3
p.N368H
c.1102A>C
1 paper
NM_001080508.3
p.N368S
c.1103A>G
1 paper
NM_001080508.3
p.S371P
c.1111T>C
1 paper
NM_001080508.3
p.A384D
c.1151C>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."