Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.G101del1

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.G101del1
c.301_302delGCC
Surrounding Variants
1 paper
NM_198965.2
p.R102R
c.304A>C
1 paper
NM_198965.2
p.R102K
c.305G>A
1 paper
NM_198965.2
p.Y103N
c.307T>A
1 paper
NM_198965.2
p.E100D
c.300G>T
1 paper
NM_198965.2
p.E100D
c.300G>C
3 papers
NM_198965.2
p.E100delFs
c.299delT
1 paper
NM_198965.2
p.Y103*
c.309C>A
2 papers
NM_198965.2
p.E100A
c.299A>C
1 paper
NM_198965.2
p.E100*
c.298G>T
2 papers
NM_198965.2
p.E100fs
c.298_299fs
1 paper
NM_198965.2
p.L104L
c.310C>T
1 paper
NM_198965.2
p.Q106H
c.318G>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."