Varaico: Literature-Extracted Genetic Variants

Gene:TRH
Variant:p.R218S

TRH

210 papers

RefSeq Summary

This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory ...

Pfam Domains

TRHaa 6–206UCSCThyrotropin-releasing hormone (TRH)

Gene Aliases

HGNC Name

thyrotropin releasing hormone

HGNC Previous Name

thyrotropin-releasing hormone

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_007117.5
p.R218S
c.654G>C
Surrounding Variants
3 papers
NM_007117.5
p.R218S
c.654G>T
1 paper
NM_007117.5
p.S217R
c.651T>A
1 paper
NM_007117.5
p.S217R
c.651T>G
1 paper
NM_007117.5
p.S217R
c.649A>C
1 paper
NM_007117.5
p.E224K
c.670G>A
1 paper
NM_007117.5
p.L213P
c.638T>C
1 paper
NM_007117.5
p.R226W
c.676C>T
1 paper
NM_007117.5
p.Q227R
c.680A>G
1 paper
NM_007117.5
p.Q227L
c.680A>T
1 paper
NM_007117.5
p.L208V
c.622C>G
1 paper
NM_007117.5
p.R231W
c.691C>T
1 paper
NM_007117.5
p.Q205R
c.614A>G
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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."