Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.L15W

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.L15W
c.44T>G
Surrounding Variants
1 paper
NM_000315.4
p.L15S
c.44T>C
1 paper
NM_000315.4
p.L15L
c.43T>C
1 paper
NM_000315.4
p.M14delFs
c.42delC
1 paper
NM_000315.4
p.L15F
c.45G>C
1 paper
NM_000315.4
p.A16Fs
c.46_47delinsAACFs
8 papers
NM_000315.4
p.M14K
c.41T>A
3 papers
NM_000315.4
p.A16delins
c.46_47delinsAA
1 paper
NM_000315.4
p.V13delFs
c.39delG
1 paper
NM_000315.4
p.V13V
c.39C>T
1 paper
NM_000315.4
p.D6_A16delFs
c.18_48del31
1 paper
NM_000315.4
p.V13insFs
c.37_38insC
1 paper
NM_000315.4
p.V13L
c.37G>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."