Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.K512E

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
5 papers
NM_001378418.1
p.K512E
c.1534A>G
Surrounding Variants
1 paper
NM_001378418.1
p.P507delFs
c.1520delG
1 paper
NM_001378418.1
p.P507fs
c.1519_1520fs
1 paper
NM_001378418.1
p.G531V
c.1592G>T
1 paper
NM_001378418.1
p.G531G
c.1593C>T
1 paper
NM_001378418.1
p.R533fs
c.1597_1598fs
1 paper
NM_001378418.1
p.R533_V534delFs
c.1599_1600delCT
1 paper
NM_001378418.1
p.V534_Q536del3
c.1600_1607del9
1 paper
NM_001378418.1
p.Q540fs
c.1618_1619fs
1 paper
NM_001378418.1
p.A478V
c.1433C>T
1 paper
NM_001378418.1
p.M473fs
c.1417_1418fs
1 paper
NM_001378418.1
p.Q471*
c.1411C>T
1 paper
NM_001378418.1
p.N468I
c.1403A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."