Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.S64R

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.S64R
c.192T>A
Surrounding Variants
1 paper
NM_001008536.2
p.S64R
c.192T>G
1 paper
NM_001008536.2
p.S64R
c.190A>C
2 papers
NM_001008536.2
p.L60L
c.180G>A
1 paper
NM_001008536.2
p.E103D
c.309G>T
1 paper
NM_001008536.2
p.E103D
c.309G>C
1 paper
NM_001008536.2
p.T116N
c.347C>A
2 papers
NM_001008536.2
p.N167Y
c.499A>T
1 paper
NM_001008536.2
p.E174K
c.520G>A
1 paper
NM_001008536.2
p.D177N
c.529G>A
1 paper
NM_001008536.2
p.G185E
c.554G>A
1 paper
NM_001008536.2
p.V192A
c.575T>C
1 paper
NM_001008536.2
p.G226R
c.676G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."