Varaico: Literature-Extracted Genetic Variants

Gene:TCHP
Variant:p.I116N

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
2 papers
NM_001143852.2
p.I116N
c.347T>A
Surrounding Variants
1 paper
NM_001143852.2
p.E113D
c.339A>C
1 paper
NM_001143852.2
p.E113D
c.339A>T
1 paper
NM_001143852.2
p.Q119*
c.355C>T
1 paper
NM_001143852.2
p.Q119P
c.356A>C
1 paper
NM_001143852.2
p.E113fs
c.337_338fs
1 paper
NM_001143852.2
p.Q112insFs
c.335dupA
1 paper
NM_001143852.2
p.Q112_E113del2
c.334_338del6
1 paper
NM_001143852.2
p.K122R
c.365A>G
1 paper
NM_001143852.2
p.K124E
c.370A>G
1 paper
NM_001143852.2
p.K124I
c.371A>T
1 paper
NM_001143852.2
p.K124_S125insFs
c.372_373insC
1 paper
NM_001143852.2
p.S125T
c.373T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."