Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.K37T

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_001316352.2
p.K37T
c.110A>C
Surrounding Variants
3 papers
NM_000315.4
p.A4V
c.11C>T
1 paper
NM_000315.4
p.A4S
c.10G>T
1 paper
NM_000315.4
p.A4T
c.10G>A
1 paper
NM_000315.4
p.D6D
c.18C>T
1 paper
NM_000315.4
p.M7T
c.20T>C
3 papers
NM_000315.4
p.M7_A8insFs
c.21_22insT
1 paper
NM_000315.4
p.A8insFs
c.22_23insT
1 paper
NM_000315.4
p.A8T
c.22G>A
1 paper
NM_000315.4
p.I2delFs
c.4delT
1 paper
NM_000315.4
p.I2L
c.4A>T
1 paper
NM_000315.4
p.I2L
c.4A>C
3 papers
NM_000315.4
p.M1I
c.3G>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."