Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.G142V

PTH1R

301 papers

RefSeq Summary

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The ...

Pfam Domains

HRMaa 105–173UCSCHormone receptor domain
7tm_2aa 184–455UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

parathyroid hormone 1 receptor

HGNC Previous Symbols

PTHR; PTHR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000316.3
p.G142V
c.425G>T
Surrounding Variants
4 papers
NM_000316.3
p.Y145C
c.434A>G
2 papers
NM_000316.3
p.R146R
c.436C>A
6 papers
NM_000316.3
p.R146*
c.436C>T
10 papers
NM_000316.3
p.R147C
c.439C>T
1 paper
NM_000316.3
p.R147H
c.440G>A
24 papers
NM_000316.3
p.R150C
c.448C>T
13 papers
NM_000316.3
p.E155*
c.463G>T
1 paper
NM_000316.3
p.S168R
c.502A>C
1 paper
NM_000316.3
p.S168R
c.504C>A
1 paper
NM_000316.3
p.S168R
c.504C>G
1 paper
NM_000316.3
p.E169K
c.505G>A
5 papers
NM_000316.3
p.E169*
c.505G>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."