Varaico: Literature-Extracted Genetic Variants

Gene:TCHHL1
Variant:p.P504T

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.P504T
c.1510C>A
Surrounding Variants
1 paper
NM_001008536.2
p.S509T
c.1525T>A
1 paper
NM_001008536.2
p.V510A
c.1529T>C
1 paper
NM_001008536.2
p.E497Q
c.1489G>C
1 paper
NM_001008536.2
p.A495A
c.1485A>G
1 paper
NM_001008536.2
p.G494R
c.1480G>C
1 paper
NM_001008536.2
p.G494R
c.1480G>A
1 paper
NM_001008536.2
p.L493L
c.1477C>T
1 paper
NM_001008536.2
p.R515M
c.1544G>T
1 paper
NM_001008536.2
p.A488E
c.1463C>A
1 paper
NM_001008536.2
p.S483R
c.1449C>G
1 paper
NM_001008536.2
p.S483R
c.1449C>A
2 papers
NM_001008536.2
p.S483N
c.1448G>A
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