Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.R75K

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
3 papers
NM_000315.4
p.R75K
c.224G>A
Surrounding Variants
1 paper
NM_000315.4
p.R75R
c.225A>G
1 paper
NM_000315.4
p.R75_D76delFs
c.224_227del4
1 paper
NM_000315.4
p.V66_A73del0
c.198_218del21
1 paper
NM_000315.4
p.A77D
c.230C>A
1 paper
NM_000315.4
p.A73T
c.217G>A
1 paper
NM_000315.4
p.G78D
c.233G>A
1 paper
NM_000315.4
p.S79F
c.236C>T
1 paper
NM_000315.4
p.P71L
c.212C>T
1 paper
NM_000315.4
p.S79C
c.236C>G
1 paper
NM_000315.4
p.S79Y
c.236C>A
1 paper
NM_000315.4
p.P71S
c.211C>T
1 paper
NM_000315.4
p.Q80Q
c.240G>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."