Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.Q233K

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.Q233K
c.697C>A
Surrounding Variants
1 paper
NM_001008536.2
p.E234Q
c.700G>C
1 paper
NM_001008536.2
p.A239V
c.716C>T
1 paper
NM_001008536.2
p.G226R
c.676G>C
1 paper
NM_001008536.2
p.G226R
c.676G>A
1 paper
NM_001008536.2
p.V192A
c.575T>C
1 paper
NM_001008536.2
p.T280K
c.839C>A
1 paper
NM_001008536.2
p.G185E
c.554G>A
1 paper
NM_001008536.2
p.S286insFs
c.858dupT
1 paper
NM_001008536.2
p.N287fs
c.859_860fs
1 paper
NM_001008536.2
p.D177N
c.529G>A
1 paper
NM_001008536.2
p.E174K
c.520G>A
8 papers
NM_001008536.2
p.Q294*
c.880C>T
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