Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.L30I

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.L30I
c.88C>A
Surrounding Variants
1 paper
NM_198965.2
p.L30V
c.88C>G
2 papers
NM_198965.2
p.L30R
c.89T>G
1 paper
NM_198965.2
p.L30P
c.89T>C
1 paper
NM_198965.2
p.G29D
c.86G>A
1 paper
NM_198965.2
p.S31R
c.91A>C
1 paper
NM_198965.2
p.E28E
c.84G>A
1 paper
NM_198965.2
p.R32S
c.94C>A
1 paper
NM_198965.2
p.V27M
c.79G>A
3 papers
NM_198965.2
p.R33_L34insC
c.97_101ins3
1 paper
NM_198965.2
p.S26_V27insFs
c.78_79insT
1 paper
NM_198965.2
p.S26S
c.78G>A
2 papers
NM_198965.2
p.S26L
c.77C>T
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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."