Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.K124R

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.K124R
c.371A>G
Surrounding Variants
1 paper
NM_198965.2
p.G123G
c.369G>C
1 paper
NM_198965.2
p.G123G
c.369G>A
1 paper
NM_198965.2
p.P122_G123delFs
c.364_368del5
1 paper
NM_198965.2
p.K125Q
c.373A>C
1 paper
NM_198965.2
p.G123R
c.367G>C
1 paper
NM_198965.2
p.G123R
c.367G>A
1 paper
NM_198965.2
p.K125N
c.375A>T
1 paper
NM_198965.2
p.K125N
c.375A>C
1 paper
NM_198965.2
p.K126Q
c.376A>C
1 paper
NM_198965.2
p.K124_K125delFs
c.370_374del5
1 paper
NM_198965.2
p.K126fs
c.376_377fs
1 paper
NM_198965.2
p.P122S
c.364C>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."