Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.A295V

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
2 papers
NM_005048.4
p.A295V
c.884C>T
Surrounding Variants
2 papers
NM_005048.4
p.A293V
c.878C>T
2 papers
NM_005048.4
p.A297V
c.890C>T
1 paper
NM_005048.4
p.F286L
c.858T>A
1 paper
NM_005048.4
p.F286L
c.858T>G
1 paper
NM_005048.4
p.F286L
c.856T>C
1 paper
NM_005048.4
p.G285A
c.854G>C
1 paper
NM_005048.4
p.W284*
c.852G>A
1 paper
NM_005048.4
p.W284*
c.851G>A
1 paper
NM_005048.4
p.L276P
c.827T>C
3 papers
NM_005048.4
p.G258D
c.773G>A
1 paper
NM_005048.4
p.V256M
c.766G>A
1 paper
NM_005048.4
p.I244L
c.730A>C
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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."