Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.D102N

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
1 paper
NM_000315.4
p.D102N
c.304G>A
Surrounding Variants
1 paper
NM_000315.4
p.D102H
c.304G>C
1 paper
NM_000315.4
p.D102E
c.306C>G
1 paper
NM_000315.4
p.D102E
c.306C>A
1 paper
NM_000315.4
p.K96_A101del0
c.287_301del15
1 paper
NM_000315.4
p.A101P
c.301G>C
1 paper
NM_000315.4
p.A104D
c.311C>A
1 paper
NM_000315.4
p.A104A
c.312T>A
1 paper
NM_000315.4
p.G99A
c.296G>C
1 paper
NM_000315.4
p.G99E
c.296G>A
1 paper
NM_000315.4
p.G99R
c.295G>A
2 papers
NM_000315.4
p.L98P
c.293T>C
1 paper
NM_000315.4
p.L98F
c.292C>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."