Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.R83R

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
Selected Variant
4 papers
NM_000315.4
p.R83R
c.247C>A
Surrounding Variants
10 papers
NM_000315.4
p.R83*
c.247C>T
1 paper
NM_000315.4
p.R83_K84insA
c.247_251ins3
1 paper
NM_000315.4
p.R83insFs
c.247_248insC
1 paper
NM_000315.4
p.P82insFs
c.244_245insG
1 paper
NM_000315.4
p.Q80Q
c.240G>A
1 paper
NM_000315.4
p.K85fs
c.253_254fs
1 paper
NM_000315.4
p.S79F
c.236C>T
1 paper
NM_000315.4
p.S79C
c.236C>G
1 paper
NM_000315.4
p.S79Y
c.236C>A
1 paper
NM_000315.4
p.K85_E86del2
c.253_257del6
1 paper
NM_000315.4
p.G78D
c.233G>A
1 paper
NM_000315.4
p.A77D
c.230C>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."