Varaico: Literature-Extracted Genetic Variants

Gene:TCHH
Variant:p.R68C

TCHH

280 papers

RefSeq Summary

The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein a...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

trichohyalin

HGNC Previous Symbol

THH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_007113.4
p.R68C
c.202C>T
Surrounding Variants
4 papers
NM_007113.4
p.L63R
c.188T>G
1 paper
NM_007113.4
p.N72K
c.216C>G
1 paper
NM_007113.4
p.N72K
c.216C>A
1 paper
NM_007113.4
p.F77L
c.229T>C
1 paper
NM_007113.4
p.F77L
c.231T>G
1 paper
NM_007113.4
p.F77L
c.231T>A
1 paper
NM_007113.4
p.R47K
c.140G>A
1 paper
NM_007113.4
p.Q111delFs
c.331delG
3 papers
NM_007113.4
p.Q111delFs
c.333delT
1 paper
NM_007113.4
p.R113_Q115delFs
c.339_343del5
1 paper
NM_007113.4
p.E116_D118del0
c.346_354del9
1 paper
NM_007113.4
p.R120fs
c.358_359fs
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