Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.K440N

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.K440N
c.1320A>C
Surrounding Variants
1 paper
NM_001008536.2
p.K440N
c.1320A>T
1 paper
NM_001008536.2
p.S442S
c.1326T>A
1 paper
NM_001008536.2
p.E443E
c.1329G>A
1 paper
NM_001008536.2
p.E450D
c.1350A>T
1 paper
NM_001008536.2
p.E450D
c.1350A>C
1 paper
NM_001008536.2
p.R413W
c.1237C>T
1 paper
NM_001008536.2
p.V481M
c.1441G>A
1 paper
NM_001008536.2
p.S483R
c.1447A>C
2 papers
NM_001008536.2
p.S483N
c.1448G>A
1 paper
NM_001008536.2
p.S483R
c.1449C>G
1 paper
NM_001008536.2
p.S483R
c.1449C>A
1 paper
NM_001008536.2
p.A488E
c.1463C>A
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."