Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.L157P

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.L157P
c.470T>C
Surrounding Variants
1 paper
NM_198965.2
p.G156E
c.467G>A
1 paper
NM_198965.2
p.E158A
c.473A>C
1 paper
NM_198965.2
p.G156R
c.466G>C
1 paper
NM_198965.2
p.G156R
c.466G>A
1 paper
NM_198965.2
p.G159R
c.475G>A
1 paper
NM_198965.2
p.S155G
c.463A>G
2 papers
NM_198965.2
p.G154R
c.460G>C
2 papers
NM_198965.2
p.G154R
c.460G>A
2 papers
NM_198965.2
p.L162V
c.484C>G
1 paper
NM_198965.2
p.L162P
c.485T>C
1 paper
NM_198965.2
p.V152M
c.454G>A
2 papers
NM_198965.2
p.G151R
c.451G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."