Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.K129K

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.K129K
c.387G>A
Surrounding Variants
1 paper
NM_198965.2
p.K129_P130insFs
c.387_388insA
3 papers
NM_198965.2
p.P130R
c.389C>G
1 paper
NM_198965.2
p.K129*
c.385A>T
1 paper
NM_198965.2
p.K129Q
c.385A>C
1 paper
NM_198965.2
p.G128V
c.383G>T
1 paper
NM_198965.2
p.G128D
c.383G>A
1 paper
NM_198965.2
p.G128S
c.382G>A
1 paper
NM_198965.2
p.K127N
c.381A>T
1 paper
NM_198965.2
p.K132R
c.395A>G
1 paper
NM_198965.2
p.K126fs
c.376_377fs
1 paper
NM_198965.2
p.K124_K125delFs
c.370_374del5
1 paper
NM_198965.2
p.K126Q
c.376A>C
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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."