Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.Q18L

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.Q18L
c.53A>T
Surrounding Variants
1 paper
NM_001143852.2
p.Q18R
c.53A>G
1 paper
NM_001143852.2
p.L16L
c.48G>A
1 paper
NM_001143852.2
p.L16P
c.47T>C
1 paper
NM_001143852.2
p.L16_Q18del3
c.46_53del9
1 paper
NM_001143852.2
p.R22G
c.64C>G
1 paper
NM_001143852.2
p.Q14H
c.42G>C
1 paper
NM_001143852.2
p.Q14H
c.42G>T
1 paper
NM_001143852.2
p.Q14*
c.40C>T
1 paper
NM_001143852.2
p.Q23*
c.67C>T
2 papers
NM_001143852.2
p.R24*
c.70C>T
1 paper
NM_001143852.2
p.R24delFs
c.71delG
2 papers
NM_001143852.2
p.R24Q
c.71G>A
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