Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.P111H

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.P111H
c.332C>A
Surrounding Variants
1 paper
NM_001378418.1
p.Q108*
c.322C>T
2 papers
NM_001378418.1
p.P104_Q105insFs
c.310_313dup4
1 paper
NM_001378418.1
p.Q105fs
c.313_314fs
1 paper
NM_001378418.1
p.T101_G102del2
c.301_305del6
1 paper
NM_001378418.1
p.P120T
c.358C>A
1 paper
NM_001378418.1
p.G102V
c.305G>T
1 paper
NM_001378418.1
p.Q122fs
c.364_365fs
1 paper
NM_001378418.1
p.Q122*
c.364C>T
2 papers
NM_001378418.1
p.Q122insFs
c.364dupC
2 papers
NM_001378418.1
p.Q122fs
c.364_365fs
1 paper
NM_001378418.1
p.G123R
c.367G>C
1 paper
NM_001378418.1
p.G123R
c.367G>A
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