Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.G62S

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.G62S
c.184G>A
Surrounding Variants
1 paper
NM_001080508.3
p.G58S
c.172G>A
1 paper
NM_001080508.3
p.A74V
c.221C>T
1 paper
NM_001080508.3
p.G48R
c.142G>C
1 paper
NM_001080508.3
p.G48R
c.142G>A
1 paper
NM_001080508.3
p.A47S
c.139G>T
1 paper
NM_001080508.3
p.E45K
c.133G>A
1 paper
NM_001080508.3
p.G80R
c.238G>C
1 paper
NM_001080508.3
p.G80R
c.238G>A
1 paper
NM_001080508.3
p.G42V
c.125G>T
1 paper
NM_001080508.3
p.R39*
c.115C>T
1 paper
NM_001080508.3
p.P85L
c.254C>T
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."