Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.Q294*

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
Selected Variant
8 papers
NM_001008536.2
p.Q294*
c.880C>T
Surrounding Variants
1 paper
NM_001008536.2
p.D297V
c.890A>T
1 paper
NM_001008536.2
p.N287fs
c.859_860fs
1 paper
NM_001008536.2
p.S286insFs
c.858dupT
1 paper
NM_001008536.2
p.T280K
c.839C>A
1 paper
NM_001008536.2
p.E308V
c.923A>T
1 paper
NM_001008536.2
p.D323N
c.967G>A
1 paper
NM_001008536.2
p.C328F
c.983G>T
1 paper
NM_001008536.2
p.D332H
c.994G>C
1 paper
NM_001008536.2
p.T333delFs
c.997_998delGT
1 paper
NM_001008536.2
p.A239V
c.716C>T
1 paper
NM_001008536.2
p.G351V
c.1052G>T
1 paper
NM_001008536.2
p.E354Q
c.1060G>C
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