Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH

PTHLH

407 papers

RefSeq Summary

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions d...

Pfam Domains

Parathyroidaa 35–129UCSCParathyroid hormone family

Gene Aliases

HGNC Name

parathyroid hormone like hormone

HGNC Alias Symbols

PTHRP; HHM; PTHR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
9 papers
NM_198965.2
p.R56*
c.166C>T
8 papers
NM_198965.2
p.L44P
c.131T>C
8 papers
NM_198965.2
p.L60P
c.179T>C
8 papers
NM_198965.2
p.K120*
c.358A>T
7 papers
NM_198965.2
p.R57*
c.169C>T
6 papers
NM_198965.2
p.L15R
c.44T>G
6 papers
NM_198965.2
p.P86delFs
c.258delG
6 papers
NM_198965.2
p.*178W
c.534A>G
5 papers
NM_198965.2
p.M1V
c.1A>G
5 papers
NM_198965.2
p.V11insFs
c.33dupC
5 papers
NM_198965.2
p.Y18F
c.53A>T
5 papers
NM_198965.2
p.N87fs
c.259_260fs
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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."