Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.P526S

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.P526S
c.1576C>T
Surrounding Variants
2 papers
NM_001080508.3
p.H524Y
c.1570C>T
1 paper
NM_001080508.3
p.T536I
c.1607C>T
1 paper
NM_001080508.3
p.S550F
c.1649C>T
1 paper
NM_001080508.3
p.Q495K
c.1483C>A
1 paper
NM_001080508.3
p.S490S
c.1470G>A
1 paper
NM_001080508.3
p.T562N
c.1685C>A
1 paper
NM_001080508.3
p.T564M
c.1691C>T
1 paper
NM_001080508.3
p.T564T
c.1692G>T
1 paper
NM_001080508.3
p.T564T
c.1692G>A
1 paper
NM_001080508.3
p.D565G
c.1694A>G
1 paper
NM_001080508.3
p.R566W
c.1696C>T
1 paper
NM_001080508.3
p.Q482H
c.1446G>T
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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."