Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.C23S

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.C23S
c.67T>A
Surrounding Variants
1 paper
NM_198965.2
p.C23S
c.68G>C
1 paper
NM_198965.2
p.S22A
c.64T>G
1 paper
NM_198965.2
p.C23insFs
c.69dupC
1 paper
NM_198965.2
p.G24E
c.71G>A
1 paper
NM_198965.2
p.V20insFs
c.59dupT
2 papers
NM_198965.2
p.V20E
c.59T>A
1 paper
NM_198965.2
p.V20L
c.58G>T
1 paper
NM_198965.2
p.V20L
c.58G>C
2 papers
NM_198965.2
p.S26L
c.77C>T
1 paper
NM_198965.2
p.S26*
c.77C>A
1 paper
NM_198965.2
p.S26_V27insFs
c.78_79insT
1 paper
NM_198965.2
p.S26S
c.78G>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."