Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.T117del1

TRHR

108 papers

RefSeq Summary

This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pat...

Pfam Domains

7tm_1aa 42–320UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

thyrotropin releasing hormone receptor

HGNC Previous Name

thyrotropin-releasing hormone receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003301.7
p.T117del1
c.349_350delACA
Surrounding Variants
1 paper
NM_003301.7
p.I116K
c.347T>A
1 paper
NM_003301.7
p.I116T
c.347T>C
1 paper
NM_003301.7
p.I116L
c.346A>C
1 paper
NM_003301.7
p.I116M
c.348A>G
1 paper
NM_003301.7
p.I116L
c.346A>T
1 paper
NM_003301.7
p.T117T
c.351A>T
7 papers
NM_003301.7
p.A118T
c.352G>A
1 paper
NM_003301.7
p.A118V
c.353C>T
1 paper
NM_003301.7
p.T120N
c.359C>A
1 paper
NM_003301.7
p.S112C
c.335C>G
1 paper
NM_003301.7
p.G108E
c.323G>A
1 paper
NM_003301.7
p.I125delFs
c.373delA
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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."