Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1

TCHHL1

74 papers

RefSeq Summary

This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the developmen...

Pfam Domains

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

Gene Aliases

HGNC Name

trichohyalin like 1

HGNC Previous Symbols

S100A17; THHL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
8 papers
NM_001008536.2
p.Q294*
c.880C>T
7 papers
NM_001008536.2
p.Q656*
c.1966C>T
3 papers
NM_001008536.2
p.C789R
c.2365T>C
2 papers
NM_001008536.2
p.L60L
c.180G>A
2 papers
NM_001008536.2
p.N167Y
c.499A>T
2 papers
NM_001008536.2
p.S483N
c.1448G>A
2 papers
NM_001008536.2
p.D534N
c.1600G>A
2 papers
NM_001008536.2
p.Q896*
c.2686C>T
1 paper
NM_001008536.2
p.E13*
c.37G>T
1 paper
NM_001008536.2
p.E21E
c.63G>A
1 paper
NM_001008536.2
p.S64R
c.190A>C
1 paper
NM_001008536.2
p.S64R
c.192T>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."