Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.E257delFs

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.E257delFs
c.770_771delAG
Surrounding Variants
1 paper
NM_001143852.2
p.E256G
c.767A>G
1 paper
NM_001143852.2
p.E255D
c.765G>C
1 paper
NM_001143852.2
p.E255D
c.765G>T
1 paper
NM_001143852.2
p.E255G
c.764A>G
2 papers
NM_001143852.2
p.R258*
c.772C>T
1 paper
NM_001143852.2
p.L251P
c.752T>C
1 paper
NM_001143852.2
p.E250G
c.749A>G
21 papers
NM_001143852.2
p.R248Q
c.743G>A
1 paper
NM_001143852.2
p.R248P
c.743G>C
1 paper
NM_001143852.2
p.R248L
c.743G>T
1 paper
NM_001143852.2
p.R248G
c.742C>G
25 papers
NM_001143852.2
p.R248W
c.742C>T
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