Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.W118R

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
1 paper
NM_000316.3
p.W118R
c.352T>A
Surrounding Variants
1 paper
NM_000316.3
p.W118C
c.354G>C
1 paper
NM_000316.3
p.W118C
c.354G>T
13 papers
NM_000316.3
p.P119L
c.356C>T
1 paper
NM_000316.3
p.L120L
c.358C>T
1 paper
NM_000316.3
p.G121_A122del2
c.361_365del6
1 paper
NM_000316.3
p.G121R
c.361G>C
2 papers
NM_000316.3
p.H114Q
c.342C>A
2 papers
NM_000316.3
p.H114Q
c.342C>G
5 papers
NM_000316.3
p.G121E
c.362G>A
4 papers
NM_000316.3
p.A122T
c.364G>A
1 paper
NM_000316.3
p.D113V
c.338A>T
1 paper
NM_000316.3
p.D113N
c.337G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."