Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.A384D

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.A384D
c.1151C>A
Surrounding Variants
1 paper
NM_001080508.3
p.S396F
c.1187C>T
1 paper
NM_001080508.3
p.S371P
c.1111T>C
1 paper
NM_001080508.3
p.N368S
c.1103A>G
1 paper
NM_001080508.3
p.N368H
c.1102A>C
1 paper
NM_001080508.3
p.H401Y
c.1201C>T
1 paper
NM_001080508.3
p.N405K
c.1215C>G
1 paper
NM_001080508.3
p.N405K
c.1215C>A
1 paper
NM_001080508.3
p.A415T
c.1243G>A
1 paper
NM_001080508.3
p.R422H
c.1265G>A
1 paper
NM_001080508.3
p.T437A
c.1309A>G
1 paper
NM_001080508.3
p.G446V
c.1337G>T
1 paper
NM_001080508.3
p.F449I
c.1345T>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."