Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.T167A

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.T167A
c.499A>G
Surrounding Variants
1 paper
NM_198965.2
p.T167I
c.500C>T
1 paper
NM_198965.2
p.S166F
c.497C>T
1 paper
NM_198965.2
p.S166A
c.496T>G
3 papers
NM_198965.2
p.S169L
c.506C>T
1 paper
NM_198965.2
p.D164A
c.491A>C
1 paper
NM_198965.2
p.D164insFs
c.491_492insG
1 paper
NM_198965.2
p.L162P
c.485T>C
2 papers
NM_198965.2
p.L162V
c.484C>G
1 paper
NM_198965.2
p.S174A
c.520T>G
1 paper
NM_198965.2
p.G159R
c.475G>A
1 paper
NM_198965.2
p.E158A
c.473A>C
1 paper
NM_198965.2
p.L157P
c.470T>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."