Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.R94G

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.R94G
c.280C>G
Surrounding Variants
1 paper
NM_198965.2
p.R94Q
c.281G>A
1 paper
NM_198965.2
p.V93V
c.279C>G
1 paper
NM_198965.2
p.F95L
c.283T>C
1 paper
NM_198965.2
p.V93I
c.277G>A
1 paper
NM_198965.2
p.F95L
c.285T>G
1 paper
NM_198965.2
p.F95L
c.285T>A
1 paper
NM_198965.2
p.P92S
c.274C>T
1 paper
NM_198965.2
p.S97T
c.289T>A
1 paper
NM_198965.2
p.S97F
c.290C>T
1 paper
NM_198965.2
p.K89M
c.266A>T
1 paper
NM_198965.2
p.T88K
c.263C>A
1 paper
NM_198965.2
p.S82_N87del0
c.246_260del15
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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."