Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.R342P

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
3 papers
NM_001143852.2
p.R342P
c.1025G>C
Surrounding Variants
1 paper
NM_001143852.2
p.E343K
c.1027G>A
1 paper
NM_001143852.2
p.E343delFs
c.1028delA
2 papers
NM_001143852.2
p.E343A
c.1028A>C
1 paper
NM_001143852.2
p.A341P
c.1021G>C
1 paper
NM_001143852.2
p.Q337*
c.1009C>T
1 paper
NM_001143852.2
p.L336P
c.1007T>C
1 paper
NM_001143852.2
p.Q335*
c.1003C>T
1 paper
NM_001143852.2
p.I332M
c.996T>G
1 paper
NM_001143852.2
p.I332N
c.995T>A
1 paper
NM_001143852.2
p.I332V
c.994A>G
1 paper
NM_001143852.2
p.A331P
c.991G>C
1 paper
NM_001143852.2
p.Q330R
c.989A>G
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