Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.E1411fs

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.E1411fs
c.4231_4232fs
Surrounding Variants
1 paper
NM_001378418.1
p.E1411insFs
c.4231dupG
1 paper
NM_001378418.1
p.D1404insFs
c.4211_4212insTT
1 paper
NM_001378418.1
p.A1403T
c.4207G>A
1 paper
NM_001378418.1
p.D1402delFs
c.4204delC
1 paper
NM_001378418.1
p.E1427*
c.4279G>T
1 paper
NM_001378418.1
p.S1440del1
c.4318_4320delGCT
1 paper
NM_001378418.1
p.A1373V
c.4118C>T
1 paper
NM_001378418.1
p.A1456S
c.4366G>T
1 paper
NM_001378418.1
p.R1348Q
c.4043G>A
1 paper
NM_001378418.1
p.P1343H
c.4028C>A
1 paper
NM_001378418.1
p.S1482fs
c.4444_4445fs
1 paper
NM_001378418.1
p.G1481_S1482insFs
c.4441_4444dup4
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