Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.K124I

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.K124I
c.371A>T
Surrounding Variants
1 paper
NM_001143852.2
p.K124_S125insFs
c.372_373insC
1 paper
NM_001143852.2
p.K124E
c.370A>G
1 paper
NM_001143852.2
p.S125T
c.373T>A
1 paper
NM_001143852.2
p.S125insFs
c.373_374insA
1 paper
NM_001143852.2
p.S125L
c.374C>T
1 paper
NM_001143852.2
p.K122R
c.365A>G
1 paper
NM_001143852.2
p.K127E
c.379A>G
3 papers
NM_001143852.2
p.K127R
c.380A>G
2 papers
NM_001143852.2
p.E129*
c.385G>T
1 paper
NM_001143852.2
p.Q119P
c.356A>C
1 paper
NM_001143852.2
p.Q119*
c.355C>T
1 paper
NM_001143852.2
p.R131delFs
c.393delG
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