Varaico: Literature-Extracted Genetic Variants

Gene:TCHH

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
1–12 of 379 variants
10 papers
NM_007113.4
p.L790M
c.2368T>A
7 papers
NM_007113.4
p.Q506_L507ins6
c.1518_1519ins18
7 papers
NM_007113.4
p.L1258V
c.3772C>G
6 papers
NM_007113.4
p.Q331*
c.991C>T
6 papers
NM_007113.4
p.Q506ins6
c.1517_1518ins18
6 papers
NM_007113.4
p.K1902Q
c.5704A>C
5 papers
NM_007113.4
p.E333del1
c.997_999delCTC
5 papers
NM_007113.4
p.Q382E
c.1144C>G
5 papers
NM_007113.4
p.V1146L
c.3436G>T
5 papers
NM_007113.4
p.V1146L
c.3436G>C
4 papers
NM_007113.4
p.M1fs
c.1_2fs
4 papers
NM_007113.4
p.L63R
c.188T>G
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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."