Varaico: Literature-Extracted Genetic Variants

Gene:TCF20
Variant:p.H431L

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.H431L
c.1292A>T
Surrounding Variants
1 paper
NM_001378418.1
p.H431P
c.1292A>C
1 paper
NM_001378418.1
p.H431H
c.1293T>C
1 paper
NM_001378418.1
p.S430S
c.1290T>C
1 paper
NM_001378418.1
p.N429N
c.1287T>C
1 paper
NM_001378418.1
p.P428P
c.1284T>C
1 paper
NM_001378418.1
p.S427S
c.1281T>C
1 paper
NM_001378418.1
p.P426P
c.1278C>A
1 paper
NM_001378418.1
p.T421S
c.1262C>G
1 paper
NM_001378418.1
p.T421S
c.1261A>T
1 paper
NM_001378418.1
p.L448P
c.1343T>C
2 papers
NM_001378418.1
p.L412insFs
c.1235dupT
2 papers
NM_001378418.1
p.L412fs
c.1234_1235fs
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