Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.S593S

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.S593S
c.1779C>T
Surrounding Variants
1 paper
NM_001378418.1
p.D594N
c.1780G>A
1 paper
NM_001378418.1
p.V604delFs
c.1810_1811delAC
1 paper
NM_001378418.1
p.A581V
c.1742C>T
1 paper
NM_001378418.1
p.A577E
c.1730C>A
1 paper
NM_001378418.1
p.P575S
c.1723C>T
1 paper
NM_001378418.1
p.M613fs
c.1837_1838fs
1 paper
NM_001378418.1
p.R616L
c.1847G>T
1 paper
NM_001378418.1
p.R616Q
c.1847G>A
2 papers
NM_001378418.1
p.P569insFs
c.1707dupC
1 paper
NM_001378418.1
p.R570fs
c.1708_1709fs
1 paper
NM_001378418.1
p.P569delFs
c.1707delG
1 paper
NM_001378418.1
p.K619delFs
c.1856delT
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