Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.S23P

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
11 papers
NM_000315.4
p.S23P
c.67T>C
Surrounding Variants
8 papers
NM_000315.4
p.S23*
c.68C>A
1 paper
NM_000315.4
p.S23delFs
c.68delG
2 papers
NM_000315.4
p.K22R
c.65A>G
1 paper
NM_000315.4
p.K22insFs
c.64_65insT
1 paper
NM_000315.4
p.S23insFs
c.69dupG
1 paper
NM_000315.4
p.D24delFs
c.70delC
1 paper
NM_000315.4
p.T21_K22insT
c.61_65ins3
1 paper
NM_000315.4
p.L20F
c.58C>T
1 paper
NM_000315.4
p.K26Q
c.76A>C
1 paper
NM_000315.4
p.K26R
c.77A>G
1 paper
NM_000315.4
p.K26_S27insFs
c.78_79insT
2 papers
NM_000315.4
p.K26delFs
c.76delT
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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."