Varaico: Literature-Extracted Genetic Variants

Gene:TCHP

TCHP

720 papers

Pfam Domains

TPHaa 143–488UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

trichoplein keratin filament binding

HGNC Alias Symbols

MGC10854; TpMs

Papers
RefSeq ID
Protein change
DNA change
1–12 of 246 variants
25 papers
NM_001143852.2
p.R248W
c.742C>T
21 papers
NM_001143852.2
p.R248Q
c.743G>A
4 papers
NM_001143852.2
p.R24P
c.71G>C
3 papers
NM_001143852.2
p.C11*
c.33C>A
3 papers
NM_001143852.2
p.R39G
c.115C>G
3 papers
NM_001143852.2
p.K127R
c.380A>G
3 papers
NM_001143852.2
p.R342P
c.1025G>C
2 papers
NM_001143852.2
p.P4P
c.12G>A
2 papers
NM_001143852.2
p.P4P
c.12G>C
2 papers
NM_001143852.2
p.R24*
c.70C>T
2 papers
NM_001143852.2
p.R24Q
c.71G>A
2 papers
NM_001143852.2
p.E35D
c.105G>C
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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."