Varaico: Literature-Extracted Genetic Variants

Gene:TBX18
Variant:p.F586delFs

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.F586delFs
c.1757delA
Surrounding Variants
1 paper
NM_001080508.3
p.F586fs
c.1756_1757fs
1 paper
NM_001080508.3
p.L578R
c.1733T>G
1 paper
NM_001080508.3
p.Q601P
c.1802A>C
1 paper
NM_001080508.3
p.R566W
c.1696C>T
1 paper
NM_001080508.3
p.D565G
c.1694A>G
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.T564M
c.1691C>T
1 paper
NM_001080508.3
p.T562N
c.1685C>A
1 paper
NM_001080508.3
p.S550F
c.1649C>T
1 paper
NM_001080508.3
p.T536I
c.1607C>T
1 paper
NM_001080508.3
p.P526S
c.1576C>T
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