Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.Q346*

TCF20

219 papers

RefSeq Summary

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transc...

Pfam Domains

zf-HC5HC2Haa 1855–1933UCSCPHD-like zinc-binding domain

Gene Aliases

HGNC Name

transcription factor 20

HGNC Alias Symbols

AR1; SPBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001378418.1
p.Q346*
c.1036C>T
Surrounding Variants
1 paper
NM_001378418.1
p.Q343*
c.1027C>T
1 paper
NM_001378418.1
p.Q330*
c.988C>T
1 paper
NM_001378418.1
p.P324del1
c.970_971delAGG
1 paper
NM_001378418.1
p.H323_P324del1
c.969_971delGGG
1 paper
NM_001378418.1
p.Q322del1
c.964_965delTTG
4 papers
NM_001378418.1
p.Q319*
c.955C>T
2 papers
NM_001378418.1
p.Q311delFs
c.932_933delCT
1 paper
NM_001378418.1
p.C382Y
c.1145G>A
1 paper
NM_001378418.1
p.S384C
c.1151C>G
1 paper
NM_001378418.1
p.M297fs
c.889_890fs
2 papers
NM_001378418.1
p.M297delFs
c.889_890delAT
1 paper
NM_001378418.1
p.M297fs
c.889_890fs
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