Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.V91delFs

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.V91delFs
c.271delC
Surrounding Variants
1 paper
NM_000315.4
p.L90F
c.270G>T
1 paper
NM_000315.4
p.E92Q
c.274G>C
1 paper
NM_000315.4
p.L90F
c.270G>C
1 paper
NM_000315.4
p.E92K
c.274G>A
1 paper
NM_000315.4
p.L90L
c.270G>A
1 paper
NM_000315.4
p.E92A
c.275A>C
1 paper
NM_000315.4
p.L90M
c.268T>A
1 paper
NM_000315.4
p.E92fs
c.274_275fs
1 paper
NM_000315.4
p.S93_H94insT
c.277_281ins3
1 paper
NM_000315.4
p.V89D
c.266T>A
1 paper
NM_000315.4
p.K85_E86del2
c.253_257del6
1 paper
NM_000315.4
p.K85fs
c.253_254fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."