Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.H1070Y

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.H1070Y
c.3208C>T
Surrounding Variants
1 paper
NM_001378418.1
p.Q1092*
c.3274C>T
1 paper
NM_001378418.1
p.P1035insFs
c.3103_3104insC
1 paper
NM_001378418.1
p.P1035delFs
c.3103delG
1 paper
NM_001378418.1
p.D1029fs
c.3085_3086fs
1 paper
NM_001378418.1
p.G1028insFs
c.3083dupG
1 paper
NM_001378418.1
p.G1025insFs
c.3074dupG
1 paper
NM_001378418.1
p.R1115delFs
c.3344delC
1 paper
NM_001378418.1
p.R1120Q
c.3359G>A
2 papers
NM_001378418.1
p.Q1126*
c.3376C>T
1 paper
NM_001378418.1
p.Q1127fs
c.3379_3380fs
2 papers
NM_001378418.1
p.Q1127delFs
c.3379delG
1 paper
NM_001378418.1
p.Y1009*
c.3027T>G
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