Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.A222D

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.A222D
c.665C>A
Surrounding Variants
1 paper
NM_001378418.1
p.A222T
c.664G>A
1 paper
NM_001378418.1
p.S220_G223delFs
c.659_668del10
1 paper
NM_001378418.1
p.V228G
c.683T>G
1 paper
NM_001378418.1
p.S215S
c.645A>G
1 paper
NM_001378418.1
p.Q233*
c.697C>T
1 paper
NM_001378418.1
p.Y235C
c.704A>G
1 paper
NM_001378418.1
p.L208delFs
c.622delG
1 paper
NM_001378418.1
p.S240F
c.719C>T
2 papers
NM_001378418.1
p.T198insFs
c.594dupT
1 paper
NM_001378418.1
p.G199fs
c.595_596fs
2 papers
NM_001378418.1
p.S246_F247del1
c.737_739delAGG
2 papers
NM_001378418.1
p.S246_F247del2
c.736_740del6
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