Varaico: Literature-Extracted Genetic Variants

Gene:GHR

GHR

434 papers

RefSeq Summary

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and th...

Pfam Domains

EpoR_lig-bindaa 43–144UCSCErythropoietin receptor, ligand binding
EpoR_lig-bindaa 43–144UCSCErythropoietin receptor, ligand binding
fn3aa 159–250UCSCFibronectin type III domain
GHBPaa 316–617UCSCGrowth hormone receptor binding

Gene Aliases

HGNC Name

growth hormone receptor

HGNC Alias Symbol

GHBP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 506 variants
22 papers
NM_000163.5
p.I544L
c.1630A>C
18 papers
NM_000163.5
p.M206_M207Splc
c.618+792A>G
16 papers
NM_000163.5
p.C440F
c.1319G>T
14 papers
NM_000163.5
p.P579T
c.1735C>A
13 papers
NM_000163.5
p.R179C
c.535C>T
13 papers
NM_000163.5
p.E198E
c.594A>G
13 papers
NM_000163.5
p.R235*
c.703C>T
12 papers
NM_000163.5
p.P300insFs
c.899dupC
10 papers
NM_000163.5
p.R61*
c.181C>T
10 papers
NM_000163.5
p.W157*
c.470G>A
10 papers
NM_000163.5
p.W157*
c.471G>A
10 papers
NM_000163.5
p.K315_E316Splc
c.945+1G>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."