Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.Q189*

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
1 paper
NM_001378418.1
p.Q189*
c.565C>T
Surrounding Variants
1 paper
NM_001378418.1
p.Q186Q
c.558G>A
1 paper
NM_001378418.1
p.Q192*
c.574C>T
1 paper
NM_001378418.1
p.Q178_Q179del2
c.532_536del6
3 papers
NM_001378418.1
p.Q178_Q179del1
c.534_536delTGC
2 papers
NM_001378418.1
p.T198insFs
c.594dupT
1 paper
NM_001378418.1
p.G199fs
c.595_596fs
1 paper
NM_001378418.1
p.Q170E
c.508C>G
1 paper
NM_001378418.1
p.L208delFs
c.622delG
1 paper
NM_001378418.1
p.P162_Y167del6
c.484_500del18
1 paper
NM_001378418.1
p.P162L
c.485C>T
1 paper
NM_001378418.1
p.S215S
c.645A>G
1 paper
NM_001378418.1
p.T157A
c.469A>G
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