Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.E533K

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.E533K
c.1597G>A
Surrounding Variants
1 paper
NM_001008536.2
p.G532E
c.1595G>A
2 papers
NM_001008536.2
p.D534N
c.1600G>A
1 paper
NM_001008536.2
p.Y530C
c.1589A>G
1 paper
NM_001008536.2
p.E525Q
c.1573G>C
1 paper
NM_001008536.2
p.R515M
c.1544G>T
1 paper
NM_001008536.2
p.N551S
c.1652A>G
1 paper
NM_001008536.2
p.S552N
c.1655G>A
1 paper
NM_001008536.2
p.V510A
c.1529T>C
1 paper
NM_001008536.2
p.E556Q
c.1666G>C
1 paper
NM_001008536.2
p.S509T
c.1525T>A
1 paper
NM_001008536.2
p.E557K
c.1669G>A
1 paper
NM_001008536.2
p.N559K
c.1677T>G
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."