Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.E23*

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
1 paper
NM_003301.7
p.E23*
c.67G>T
Surrounding Variants
1 paper
NM_003301.7
p.V20M
c.58G>A
1 paper
NM_003301.7
p.I29_L31delFs
c.87_93del7
14 papers
NM_003301.7
p.R17*
c.49C>T
1 paper
NM_003301.7
p.L14L
c.42T>A
1 paper
NM_003301.7
p.L31H
c.92T>A
1 paper
NM_003301.7
p.V32I
c.94G>A
1 paper
NM_003301.7
p.V32L
c.94G>T
1 paper
NM_003301.7
p.Q13*
c.37C>T
1 paper
NM_003301.7
p.G37S
c.109G>A
1 paper
NM_003301.7
p.E8*
c.22G>T
5 papers
NM_003301.7
p.I40F
c.118A>T
1 paper
NM_003301.7
p.V41I
c.121G>A
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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."