Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR

GHRHR

243 papers

RefSeq Summary

This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated...

Pfam Domains

HRMaa 52–115UCSCHormone receptor domain
7tm_2aa 126–372UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

growth hormone releasing hormone receptor

Papers
RefSeq ID
Protein change
DNA change
1–12 of 310 variants
56 papers
NM_000823.4
p.E72*
c.214G>T
49 papers
NM_000823.4
p.T19_V20Splc
c.57+1G>A
31 papers
NM_000823.4
p.L144H
c.431T>A
23 papers
NM_000823.4
p.A222E
c.665C>A
22 papers
NM_000823.4
p.D60G
c.179A>G
20 papers
NM_000823.4
p.K329E
c.985A>G
19 papers
NM_000823.4
p.F242C
c.725T>G
17 papers
NM_000823.4
p.A57T
c.169G>A
17 papers
NM_000823.4
p.A176V
c.527C>T
14 papers
NM_000823.4
p.V10G
c.29T>G
14 papers
NM_000823.4
p.H137L
c.410A>T
11 papers
NM_000823.4
p.R161W
c.481C>T
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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."