Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.T75P

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
1 paper
NM_198965.2
p.T75P
c.223A>C
Surrounding Variants
1 paper
NM_198965.2
p.A74S
c.220G>T
1 paper
NM_198965.2
p.A74P
c.220G>C
2 papers
NM_198965.2
p.A74T
c.220G>A
1 paper
NM_198965.2
p.R73K
c.218G>A
1 paper
NM_198965.2
p.E77E
c.231G>A
1 paper
NM_198965.2
p.A70T
c.208G>A
1 paper
NM_198965.2
p.P80S
c.238C>T
1 paper
NM_198965.2
p.P80insFs
c.239_240insC
1 paper
NM_198965.2
p.S82insFs
c.244_245insG
1 paper
NM_198965.2
p.S82F
c.245C>T
1 paper
NM_198965.2
p.I67I
c.201C>T
1 paper
NM_198965.2
p.I67I
c.201C>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."