Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.E1243insFs

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.E1243insFs
c.3727dupG
Surrounding Variants
1 paper
NM_001378418.1
p.E1243delFs
c.3727delC
1 paper
NM_001378418.1
p.M1236K
c.3707T>A
1 paper
NM_001378418.1
p.R1254insFs
c.3760dupA
1 paper
NM_001378418.1
p.I1261S
c.3782T>G
1 paper
NM_001378418.1
p.H1221H
c.3663T>C
1 paper
NM_001378418.1
p.K1267N
c.3801G>C
1 paper
NM_001378418.1
p.Q1269*
c.3805C>T
2 papers
NM_001378418.1
p.R1268delFs
c.3803_3804delTC
1 paper
NM_001378418.1
p.R1211_Y1212insFs
c.3633_3634dupGT
1 paper
NM_001378418.1
p.Y1212fs
c.3634_3635fs
1 paper
NM_001378418.1
p.R1211insFs
c.3631dupA
1 paper
NM_001378418.1
p.D1280fs
c.3838_3839fs
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