Varaico: Literature-Extracted Genetic Variants

Gene:PTH

PTH

439 papers

RefSeq Summary

This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone...

Pfam Domains

Parathyroidaa 30–113UCSCParathyroid hormone family

Gene Aliases

HGNC Name

parathyroid hormone

HGNC Alias Symbol

PTH1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
20 papers
NM_000315.4
p.C18R
c.52T>C
11 papers
NM_000315.4
p.S23P
c.67T>C
10 papers
NM_000315.4
p.R56C
c.166C>T
10 papers
NM_000315.4
p.R83*
c.247C>T
8 papers
NM_000315.4
p.M14K
c.41T>A
8 papers
NM_000315.4
p.S23*
c.68C>A
7 papers
NM_000315.4
p.H63D
c.187C>G
6 papers
NM_000315.4
p.M1T
c.2T>C
6 papers
NM_000315.4
p.M1I
c.3G>A
6 papers
NM_000315.4
p.G43E
c.128G>A
5 papers
NM_000315.4
p.S32P
c.94T>C
4 papers
NM_000315.4
p.K29Splc
c.86+1G>C
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."