Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.S667F

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
1 paper
NM_001008536.2
p.S667F
c.2000C>T
Surrounding Variants
1 paper
NM_001008536.2
p.E663G
c.1988A>G
1 paper
NM_001008536.2
p.A675T
c.2023G>A
1 paper
NM_001008536.2
p.S658F
c.1973C>T
7 papers
NM_001008536.2
p.Q656*
c.1966C>T
1 paper
NM_001008536.2
p.D679Y
c.2035G>T
1 paper
NM_001008536.2
p.D679H
c.2035G>C
1 paper
NM_001008536.2
p.D682G
c.2045A>G
1 paper
NM_001008536.2
p.G693E
c.2078G>A
1 paper
NM_001008536.2
p.L699F
c.2097A>T
1 paper
NM_001008536.2
p.L699F
c.2097A>C
1 paper
NM_001008536.2
p.E632K
c.1894G>A
1 paper
NM_001008536.2
p.E626K
c.1876G>A
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