Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.Q833*

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
5 papers
NM_001378418.1
p.Q833*
c.2497C>T
Surrounding Variants
1 paper
NM_001378418.1
p.M831K
c.2492T>A
1 paper
NM_001378418.1
p.A828insFs
c.2482dupG
1 paper
NM_001378418.1
p.D838A
c.2513A>C
1 paper
NM_001378418.1
p.D838_Y839delFs
c.2512_2515del4
1 paper
NM_001378418.1
p.S852L
c.2555C>T
1 paper
NM_001378418.1
p.G857fs
c.2569_2570fs
1 paper
NM_001378418.1
p.S859F
c.2576C>T
1 paper
NM_001378418.1
p.S861delFs
c.2582_2583delAG
1 paper
NM_001378418.1
p.R863G
c.2587A>G
1 paper
NM_001378418.1
p.S865P
c.2593T>C
1 paper
NM_001378418.1
p.S865*
c.2594C>G
1 paper
NM_001378418.1
p.S865*
c.2594C>A
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