Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.S457R

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.S457R
c.1371T>G
Surrounding Variants
1 paper
NM_001378418.1
p.S457R
c.1371T>A
1 paper
NM_001378418.1
p.S457R
c.1369A>C
1 paper
NM_001378418.1
p.S460insFs
c.1378dupA
1 paper
NM_001378418.1
p.T461A
c.1381A>G
1 paper
NM_001378418.1
p.P451L
c.1352C>T
1 paper
NM_001378418.1
p.L448P
c.1343T>C
1 paper
NM_001378418.1
p.P467L
c.1400C>T
1 paper
NM_001378418.1
p.N468I
c.1403A>T
1 paper
NM_001378418.1
p.Q471*
c.1411C>T
1 paper
NM_001378418.1
p.M473fs
c.1417_1418fs
1 paper
NM_001378418.1
p.A478V
c.1433C>T
1 paper
NM_001378418.1
p.H431H
c.1293T>C
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