Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.A716S

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.A716S
c.2146G>T
Surrounding Variants
1 paper
NM_001008536.2
p.G711G
c.2133A>G
1 paper
NM_001008536.2
p.N728S
c.2183A>G
1 paper
NM_001008536.2
p.A730G
c.2189C>G
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.E737Q
c.2209G>C
1 paper
NM_001008536.2
p.G693E
c.2078G>A
1 paper
NM_001008536.2
p.E749K
c.2245G>A
1 paper
NM_001008536.2
p.D682G
c.2045A>G
1 paper
NM_001008536.2
p.P751H
c.2252C>A
1 paper
NM_001008536.2
p.D679Y
c.2035G>T
1 paper
NM_001008536.2
p.D679H
c.2035G>C
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