Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.Q540fs

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.Q540fs
c.1618_1619fs
Surrounding Variants
1 paper
NM_001378418.1
p.V534_Q536del3
c.1600_1607del9
1 paper
NM_001378418.1
p.R533_V534delFs
c.1599_1600delCT
1 paper
NM_001378418.1
p.R533fs
c.1597_1598fs
1 paper
NM_001378418.1
p.G531G
c.1593C>T
1 paper
NM_001378418.1
p.G531V
c.1592G>T
1 paper
NM_001378418.1
p.P560L
c.1679C>T
1 paper
NM_001378418.1
p.Q562H
c.1686A>C
1 paper
NM_001378418.1
p.G563A
c.1688G>C
5 papers
NM_001378418.1
p.K512E
c.1534A>G
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
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