Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.K230K

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.K230K
c.690A>G
Surrounding Variants
6 papers
NM_005048.4
p.A225S
c.673G>T
1 paper
NM_005048.4
p.G206R
c.616G>A
1 paper
NM_005048.4
p.G206R
c.616G>C
1 paper
NM_005048.4
p.I194M
c.582C>G
1 paper
NM_005048.4
p.V185L
c.553G>C
1 paper
NM_005048.4
p.V185L
c.553G>T
1 paper
NM_005048.4
p.F184S
c.551T>C
1 paper
NM_005048.4
p.L183V
c.547T>G
2 papers
NM_005048.4
p.H180R
c.539A>G
1 paper
NM_005048.4
p.R171*
c.511C>T
1 paper
NM_005048.4
p.A162T
c.484G>A
3 papers
NM_005048.4
p.A162S
c.484G>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."