Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.Q879R

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.Q879R
c.2636A>G
Surrounding Variants
1 paper
NM_001008536.2
p.A872E
c.2615C>A
1 paper
NM_001008536.2
p.L895R
c.2684T>G
2 papers
NM_001008536.2
p.Q896*
c.2686C>T
1 paper
NM_001008536.2
p.A829T
c.2485G>A
1 paper
NM_001008536.2
p.E818D
c.2454G>T
1 paper
NM_001008536.2
p.E818D
c.2454G>C
1 paper
NM_001008536.2
p.Y797S
c.2390A>C
1 paper
NM_001008536.2
p.Y797H
c.2389T>C
3 papers
NM_001008536.2
p.C789R
c.2365T>C
1 paper
NM_001008536.2
p.R784K
c.2351G>A
1 paper
NM_001008536.2
p.P774L
c.2321C>T
1 paper
NM_001008536.2
p.H769R
c.2306A>G
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