Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.R101*

PTH2R

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition...

Pfam Domains

7tm_2aa 30–298UCSC7 transmembrane receptor (Secretin family)
HRMaa 60–128UCSCHormone receptor domain

Gene Aliases

HGNC Name

parathyroid hormone 2 receptor

HGNC Previous Symbol

PTHR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005048.4
p.R101*
c.301C>T
Surrounding Variants
1 paper
NM_005048.4
p.F100I
c.298T>A
1 paper
NM_005048.4
p.A99D
c.296C>A
1 paper
NM_005048.4
p.A99T
c.295G>A
2 papers
NM_005048.4
p.W109C
c.327G>C
2 papers
NM_005048.4
p.W109C
c.327G>T
1 paper
NM_005048.4
p.H113Q
c.339C>A
1 paper
NM_005048.4
p.H113Q
c.339C>G
1 paper
NM_005048.4
p.R127R
c.381C>A
1 paper
NM_005048.4
p.Q130H
c.390G>C
1 paper
NM_005048.4
p.Q130H
c.390G>T
1 paper
NM_005048.4
p.K137R
c.410A>G
1 paper
NM_005048.4
p.K137K
c.411G>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."