Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.D1293E

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.D1293E
c.3879T>G
Surrounding Variants
1 paper
NM_001378418.1
p.D1293E
c.3879T>A
1 paper
NM_001378418.1
p.A1292_D1293delFs
c.3876_3877delCA
1 paper
NM_001378418.1
p.A1292T
c.3874G>A
1 paper
NM_001378418.1
p.N1297insFs
c.3889_3890insT
1 paper
NM_001378418.1
p.H1304insFs
c.3910dupC
1 paper
NM_001378418.1
p.D1280fs
c.3838_3839fs
2 papers
NM_001378418.1
p.E1279delFs
c.3837delT
1 paper
NM_001378418.1
p.D1315fs
c.3943_3944fs
2 papers
NM_001378418.1
p.D1315delFs
c.3943_3944delTC
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.K1267N
c.3801G>C
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