Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.Q51H

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.Q51H
c.153G>C
Surrounding Variants
1 paper
NM_001143852.2
p.Q51H
c.153G>T
1 paper
NM_001143852.2
p.Q51E
c.151C>G
1 paper
NM_001143852.2
p.A52G
c.155C>G
1 paper
NM_001143852.2
p.S55delFs
c.165delC
2 papers
NM_001143852.2
p.K57E
c.169A>G
1 paper
NM_001143852.2
p.I46S
c.137T>G
1 paper
NM_001143852.2
p.S44F
c.131C>T
1 paper
NM_001143852.2
p.S59T
c.175T>A
1 paper
NM_001143852.2
p.S44P
c.130T>C
1 paper
NM_001143852.2
p.S44A
c.130T>G
2 papers
NM_001143852.2
p.Y60D
c.178T>G
2 papers
NM_001143852.2
p.Q61K
c.181C>A
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