Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.I36insFs

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.I36insFs
c.108dupA
Surrounding Variants
1 paper
NM_000315.4
p.Q37L
c.110A>T
1 paper
NM_000315.4
p.Q37delFs
c.110delT
1 paper
NM_000315.4
p.L38I
c.112C>A
1 paper
NM_000315.4
p.S34S
c.102T>C
1 paper
NM_000315.4
p.M39K
c.116T>A
1 paper
NM_000315.4
p.H40Y
c.118C>T
1 paper
NM_000315.4
p.H40N
c.118C>A
1 paper
NM_000315.4
p.M39delFs
c.117delC
1 paper
NM_000315.4
p.V33V
c.99G>A
1 paper
NM_000315.4
p.H40delFs
c.118delG
1 paper
NM_000315.4
p.V33_S34insC
c.97_101ins3
1 paper
NM_000315.4
p.V33M
c.97G>A
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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."