Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.Y18*

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.Y18*
c.54C>G
Surrounding Variants
1 paper
NM_198965.2
p.Y18insFs
c.54dupC
5 papers
NM_198965.2
p.Y18F
c.53A>T
1 paper
NM_198965.2
p.A19V
c.56C>T
1 paper
NM_198965.2
p.S17R
c.51C>A
1 paper
NM_198965.2
p.V20L
c.58G>T
1 paper
NM_198965.2
p.S17insFs
c.49dupA
1 paper
NM_198965.2
p.V20L
c.58G>C
2 papers
NM_198965.2
p.V20E
c.59T>A
1 paper
NM_198965.2
p.V20insFs
c.59dupT
1 paper
NM_198965.2
p.L16insFs
c.47dupT
1 paper
NM_198965.2
p.L16P
c.47T>C
1 paper
NM_198965.2
p.Q7_L16delFs
c.21_46del26
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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."