Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.R100*

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
Selected Variant
1 paper
NM_001143852.2
p.R100*
c.298A>T
Surrounding Variants
1 paper
NM_001143852.2
p.E101A
c.302A>C
1 paper
NM_001143852.2
p.E103_S108delFs
c.309_322del14
2 papers
NM_001143852.2
p.L97R
c.290T>G
1 paper
NM_001143852.2
p.E94G
c.281A>G
1 paper
NM_001143852.2
p.R106S
c.318G>C
1 paper
NM_001143852.2
p.R106S
c.318G>T
1 paper
NM_001143852.2
p.E93K
c.277G>A
1 paper
NM_001143852.2
p.M91I
c.273G>A
1 paper
NM_001143852.2
p.L90P
c.269T>C
1 paper
NM_001143852.2
p.L90delFs
c.270delC
1 paper
NM_001143852.2
p.Q112_E113del2
c.334_338del6
1 paper
NM_001143852.2
p.Q112insFs
c.335dupA
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