Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.G54_G56del0

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.G54_G56del0
c.162_167del6
Surrounding Variants
1 paper
NM_001378418.1
p.R60*
c.178C>T
1 paper
NM_001378418.1
p.R60R
c.178C>A
1 paper
NM_001378418.1
p.R60delFs
c.178_179delCG
1 paper
NM_001378418.1
p.S50R
c.150C>G
1 paper
NM_001378418.1
p.G49S
c.145G>A
1 paper
NM_001378418.1
p.A66A
c.198G>A
1 paper
NM_001378418.1
p.Q34delFs
c.101_102delCT
1 paper
NM_001378418.1
p.Q34fs
c.100_101fs
1 paper
NM_001378418.1
p.R83G
c.247A>G
2 papers
NM_001378418.1
p.F82_R83delFs
c.246_247delTG
1 paper
NM_001378418.1
p.E29A
c.86A>C
1 paper
NM_001378418.1
p.E85K
c.253G>A
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