Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.C217F

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.C217F
c.650G>T
Surrounding Variants
1 paper
NM_000316.3
p.C217Y
c.650G>A
1 paper
NM_000316.3
p.H216R
c.647A>G
1 paper
NM_000316.3
p.L215L
c.645G>T
1 paper
NM_000316.3
p.Y221C
c.662A>G
5 papers
NM_000316.3
p.R213Splc
c.639-2A>C
4 papers
NM_000316.3
p.R213Splc
c.639-2A>G
1 paper
NM_000316.3
p.I222T
c.665T>C
47 papers
NM_000316.3
p.H223R
c.668A>G
1 paper
NM_000316.3
p.M224L
c.670A>C
1 paper
NM_000316.3
p.M224L
c.670A>T
3 papers
NM_000316.3
p.L232R
c.695T>G
3 papers
NM_000316.3
p.R233H
c.698G>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."