Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.F254L

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.F254L
c.760T>C
Surrounding Variants
1 paper
NM_003301.7
p.F254L
c.762C>A
1 paper
NM_003301.7
p.F254L
c.762C>G
1 paper
NM_003301.7
p.T257S
c.769A>T
1 paper
NM_003301.7
p.T249A
c.745A>G
1 paper
NM_003301.7
p.S259C
c.776C>G
1 paper
NM_003301.7
p.T249insFs
c.745dupA
1 paper
NM_003301.7
p.R261K
c.782G>A
1 paper
NM_003301.7
p.Q241*
c.721C>T
1 paper
NM_003301.7
p.N236delFs
c.707delA
1 paper
NM_003301.7
p.A215S
c.643G>T
1 paper
NM_003301.7
p.G212E
c.635G>A
1 paper
NM_003301.7
p.G212_I214delFs
c.636_640del5
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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."