Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.E50Q

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.E50Q
c.148G>C
Surrounding Variants
1 paper
NM_000315.4
p.M49L
c.145A>T
1 paper
NM_000315.4
p.M49L
c.145A>C
1 paper
NM_000315.4
p.L46_S48del0
c.136_144del9
1 paper
NM_000315.4
p.S48L
c.143C>T
2 papers
NM_000315.4
p.V52I
c.154G>A
NM_001316352.2
p.V84I
c.250G>A
1 paper
NM_000315.4
p.L46_W54del0
c.138_161del24
1 paper
NM_000315.4
p.L55P
c.164T>C
1 paper
NM_000315.4
p.K44R
c.131A>G
10 papers
NM_000315.4
p.R56C
c.166C>T
1 paper
NM_000315.4
p.V52_R56del0
c.155_166del12
6 papers
NM_000315.4
p.G43E
c.128G>A
2 papers
NM_000315.4
p.K57delFs
c.171delC
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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."