Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.S32P

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
5 papers
NM_000315.4
p.S32P
c.94T>C
Surrounding Variants
1 paper
NM_000315.4
p.S32insFs
c.94_95insT
1 paper
NM_000315.4
p.S32insFs
c.94_95insTA
1 paper
NM_000315.4
p.R31_S32insFs
c.93_94insT
1 paper
NM_000315.4
p.R31T
c.92G>C
1 paper
NM_000315.4
p.V33_S34insC
c.97_101ins3
1 paper
NM_000315.4
p.V33M
c.97G>A
1 paper
NM_000315.4
p.V33V
c.99G>A
1 paper
NM_000315.4
p.K30E
c.88A>G
1 paper
NM_000315.4
p.K29N
c.87G>T
1 paper
NM_000315.4
p.K29N
c.87G>C
1 paper
NM_000315.4
p.S34S
c.102T>C
1 paper
NM_000315.4
p.K29Splc
c.87-1G>C
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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."