Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.P451L

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.P451L
c.1352C>T
Surrounding Variants
1 paper
NM_001080508.3
p.F449I
c.1345T>A
1 paper
NM_001080508.3
p.T454N
c.1361C>A
1 paper
NM_001080508.3
p.G446V
c.1337G>T
1 paper
NM_001080508.3
p.T464P
c.1390A>C
1 paper
NM_001080508.3
p.T437A
c.1309A>G
1 paper
NM_001080508.3
p.S479G
c.1435A>G
1 paper
NM_001080508.3
p.R422H
c.1265G>A
1 paper
NM_001080508.3
p.P481fs
c.1441_1442fs
1 paper
NM_001080508.3
p.P481delFs
c.1443delT
1 paper
NM_001080508.3
p.Q482H
c.1446G>T
1 paper
NM_001080508.3
p.Q482H
c.1446G>C
1 paper
NM_001080508.3
p.A415T
c.1243G>A
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