Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.R1348Q

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.R1348Q
c.4043G>A
Surrounding Variants
1 paper
NM_001378418.1
p.P1343H
c.4028C>A
1 paper
NM_001378418.1
p.L1333delFs
c.3997delG
1 paper
NM_001378418.1
p.L1333fs
c.3997_3998fs
1 paper
NM_001378418.1
p.S1325N
c.3974G>A
1 paper
NM_001378418.1
p.A1373V
c.4118C>T
1 paper
NM_001378418.1
p.S1322insFs
c.3965dupG
2 papers
NM_001378418.1
p.D1315delFs
c.3943_3944delTC
1 paper
NM_001378418.1
p.D1315fs
c.3943_3944fs
1 paper
NM_001378418.1
p.H1304insFs
c.3910dupC
1 paper
NM_001378418.1
p.N1297insFs
c.3889_3890insT
1 paper
NM_001378418.1
p.D1402delFs
c.4204delC
1 paper
NM_001378418.1
p.D1293E
c.3879T>G
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