Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.P86delFs

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
Selected Variant
6 papers
NM_198965.2
p.P86delFs
c.258delG
Surrounding Variants
5 papers
NM_198965.2
p.N87fs
c.259_260fs
1 paper
NM_198965.2
p.P86P
c.258C>A
1 paper
NM_198965.2
p.T88K
c.263C>A
1 paper
NM_198965.2
p.S82_N87del0
c.246_260del15
1 paper
NM_198965.2
p.P84delFs
c.251delG
1 paper
NM_198965.2
p.K89M
c.266A>T
1 paper
NM_198965.2
p.K83insFs
c.247_248insC
1 paper
NM_198965.2
p.S82F
c.245C>T
1 paper
NM_198965.2
p.S82insFs
c.244_245insG
1 paper
NM_198965.2
p.P92S
c.274C>T
1 paper
NM_198965.2
p.V93I
c.277G>A
1 paper
NM_198965.2
p.P80insFs
c.239_240insC
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